(Q34862383)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25261319%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

title

A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25261319%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25261319%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

author name string

Ghunwa Nakouzi

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25261319%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Soha Yazbek

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25261319%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

publication date

27 September 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25261319%20AND%20SRC:MED&resulttype=core&format=json

Journal of Community Genetics

20 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25261319%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25261319%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25261319%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

page(s)

83-105

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25261319%20AND%20SRC:MED&resulttype=core&format=json

Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review

20 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Celiac disease in the developing world

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Familial hemophagocytic lymphohistiocytosis in 2 siblings with dysmorphogenesis: a new syndrome or an association between 2 syndromes?!

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Community genetics. Its definition 2010.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Chudley-McCullough syndrome: another report and a brief review of the literature

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Celiac disease, Behçet, and idiopathic thrombocytopenic purpura in siblings of a patient with multiple sclerosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Consanguinity and reproductive health among Arabs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Biallelic PMS2 mutations and a distinctive childhood cancer syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Y-chromosomal diversity in Lebanon is structured by recent historical events

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Genetic disorders in the Arab world

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Beta-thalassemia: the Lebanese experience

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Viscocanalostomy versus trabeculotomy ab externo in primary congenital glaucoma: 1-year follow-up of a prospective controlled pilot study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Megalencephalic leucoencephalopathy with subcortical cysts: a study of a Lebanese family and a review of the literature

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Medical genetics in developing countries

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

The burden of genetic disease on inpatient care in a children's hospital

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Familial benign hypocalciuric hypercalcemia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Sporadic case of X-chromosomal Alport syndrome in a consanguineous family.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Type 2 Gaucher disease: the collodion baby phenotype revisited

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Delivering genetic screening to the community

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Hereditary disorders in the Eastern Mediterranean Region.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Brief clinical report and review: the Marden-Walker syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Congenital ectodermal dysplasia with hearing loss.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

A-beta-lipoproteinaemia and colour-blindness

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Homocystinuria in Lebanon. A report of five cases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Muscular abnormality in xeroderma pigmentosum. High resolution light-microscopy and electron-microscopic observations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Familial imperforate anus: Report of a family.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Muscular hypertrophy in hypothyroid children: the Kocher-Debré-Semelaigne syndrome. A review of 23 cases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Krabbe disease: increased incidence in a highly inbred community

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Ocular findings in the candidiasis-endocrinopathy syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Familial spinocerebellar degeneration with corneal dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Juvenile hyaline fibromatosis: two new patients and review of the literature

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Collodion babies with Gaucher's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Glycogen storage disease type I: laboratory data and diagnosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Post-operative return of head malposition in congenital null point nystagmus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Therapeutic problem posed by Gardner's syndrome, report of a Lebanese family

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Hereditary bundle branch system defect: survey of a family with four affected generations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Lactose intolerance in the Lebanese population and in “Mediterranean lymphoma”

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Familial hypogonadotropic hypogonadism with alopecia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Distichiasis of the Lids and Lymphedema of the Lower Extremities: A Report of Ten Cases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

The Kniest (Swiss cheese cartilage) syndrome. Description of a distinct arthropathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Consanguinity in Lebanon: prevalence, distribution and determinants.

8 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Inflammatory skin and bowel disease linked to ADAM17 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Mutations in TREM2 lead to pure early-onset dementia without bone cysts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Identification of two mutations for ataxia telangiectasia among the Druze community

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Sickle cell disease: the Lebanese experience.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Osseous dysplasia with severe short stature, multiple dislocations, and delayed bone age: report on a second Lebanese patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Severe autosomal dominant upper-limb mesomelic dysplasia: report of a second family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Sib pair with previously unreported skeletal dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Arthrogryposis, renal tubular acidosis and cholestasis syndrome: spectrum of the clinical manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Brain malformation and infantile spasms in a SCAD deficiency patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

CTLA-4 gene polymorphism and its association with Graves' disease in the Lebanese population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Sequential development of Wilms tumor and medulloblastoma in a child: an unusual presentation of fanconi anemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive trait.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Hereditary protein C deficiency caused by the Ala267Thr mutation in the protein C gene is associated with symptomatic and asymptomatic venous thrombosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Anhidrotic ectodermal dysplasia. Report of a rare mutation in EDA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Acquired and genetic risk factors for deep vein thrombosis of lower extremities among Lebanese patients.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Cost-benefit analysis of G6PD screening in Lebanese newborn males

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Constitutional chromosome abnormalities among patients referred for blood karyotype analysis: a 5-year study at the AUBMC.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23

26 October 2018

3 references

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286563

9 December 2018

12 December 2020

A puzzling mutation in congenital erythropoietic porphyria and an association with β-thalassaemia trait

1 reference

https://api.crossref.org/works/10.1007%2FS12687-014-0203-3

Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg

21 January 2018

1 reference

12 December 2020

A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes

1 reference

12 December 2020

Metaphyseal dysplasia-Bellini type. Report of two cases

1 reference

12 December 2020

Prenatal tests for Sanfilippo disease type B in four pregnancies

1 reference

12 December 2020

Two families from New England with usher syndrome type IC with distinct haplotypes

1 reference

12 December 2020

Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome

1 reference

12 December 2020

Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family

1 reference

12 December 2020

A case-control study of rheumatoid arthritis in Lebanon

1 reference

12 December 2020

Characterization of a large Lebanese family segregating IgA nephropathy

1 reference

12 December 2020

Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation

1 reference

12 December 2020

Early lethal autosomal recessive enterocolitis: report of a second family

1 reference

12 December 2020

A newly recognized chondrodysplasia with multiple dislocations

1 reference

12 December 2020

Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online

1 reference

12 December 2020

Multiple asymptomatic skin-coloured papules over the neck and antecubital areas. Pseudoxanthoma elasticum (PXE)

1 reference

12 December 2020

Childhood Blindness in Lebanon

1 reference

12 December 2020

Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia

1 reference

12 December 2020

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome

1 reference

12 December 2020

A new autosomal recessive oto-facial syndrome with midline malformations

1 reference

12 December 2020

[Neurological manifestations of Behcet's disease: 22 cases among 170 patients]

1 reference

12 December 2020

Late onset of Imerslund-Gräsbeck syndrome without proteinuria in four children of one family from the Lebanon

1 reference

12 December 2020

Genetic diseases in Lebanon

1 reference

12 December 2020

International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes

1 reference

12 December 2020

Mutational Analysis in Lebanese Patients with Congenital Adrenal Hyperplasia due to a Deficit in 21-Hydroxylase

1 reference

12 December 2020

Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency

1 reference

12 December 2020

Familial Cushing Disease

1 reference

12 December 2020

Familial Kaposi's sarcoma and Paget's disease of bone

1 reference

12 December 2020

The study of inborn errors of metabolism in Lebanon

1 reference

12 December 2020

Familial Laugier-Hunziker syndrome.

1 reference

12 December 2020

Juvenile ankylosing spondylitis. Report of three cases

1 reference

12 December 2020

Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers

1 reference

12 December 2020

Familial occurrence of painful subacute thyroiditis associated with human leukocyte antigen-B35

1 reference

12 December 2020

Prolidase deficiency. A metabolic disorder presenting with dermatologic signs

1 reference

12 December 2020

CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis

1 reference

12 December 2020

The retinopathy of primary hyperoxaluria

1 reference

12 December 2020

INFANTILE AMAUROTIC FAMILY IDIOCY AND GARGOYLISM IN SIBLINGS

1 reference

12 December 2020

An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism

1 reference

12 December 2020

Hereditary bundle branch defect: right bundle branch blocks of different causes have different morphologic characteristics

1 reference

12 December 2020

Familial continual skin peeling

1 reference

12 December 2020

Fructose-1,6-diphosphatase deficiency: diagnosis using leukocytes and detection of heterozygotes with radiochemical and spectrophotometric methods

1 reference

12 December 2020

PIGMENTATION IN ADDISON'S DISEASE; A CASE IN WHICH PIGMENTATION WAS THE ONLY SIGN

1 reference

12 December 2020

Gene expression profiling in breast cancer

1 reference

12 December 2020

Diabetes insipidus and diabetes mellitus in a six-year-old girl

1 reference

12 December 2020

High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel

1 reference

12 December 2020

Further evidence of genetic homogeneity in Sjögren-Larsson syndrome

1 reference

12 December 2020

Complement deficiency and nephritis. A report of a family

1 reference

12 December 2020

WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon

1 reference

12 December 2020

Retinoblastoma in Lebanon

1 reference

12 December 2020

10.1007/S12687-014-0203-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25261319%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

20 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25261319%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

PubMed publication ID

25261319

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25261319%20AND%20SRC:MED&resulttype=core&format=json