(Q37741152)

22 August 2017

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title

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). (English)

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22 August 2017

Bassam R Ali

2

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Lihadh Al-Gazali

series ordinal

1

object named as

Lihadh Al-Gazali

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PubMed ID

20437613

22 August 2017

language of work or name

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1 May 2010

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22 August 2017

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22 August 2017

31

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22 August 2017

5

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22 August 2017

505-520

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Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis.

22 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Diversity in expression of glucose-6-phosphate dehydrogenase deficiency in females

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

A genetic aetiological survey of severe childhood deafness in the United Arab Emirates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Attitudes toward genetic counseling in the United Arab Emirates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Consanguineous marriages in the United Arab Emirates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

The profile of major congenital abnormalities in the United Arab Emirates (UAE) population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Genetic disorders in the Arab world

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Further delineation of Hennekam syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Further delineation of Raine syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Pattern of central nervous system anomalies in a population with a high rate of consanguineous marriages.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Major congenital malformations in United Arab Emirates (UAE): need for genetic counselling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Al-Ain District, United Arab Emirates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Hemoglobinopathies in the United Arab Emirates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Molecular heterogeneity of beta-thalassemia in the United Arab Emirates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

The geographic distribution of cystic fibrosis mutations gives clues about population origins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

alpha-thalassemia in the United Arab Emirates.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Genotype-phenotype correlations in cystic fibrosis: clinical severity of mutation S549R(T-->G)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Determination of the prevalence of cystic fibrosis in the United Arab Emirates by genetic carrier screening

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Identification of CANT1 mutations in Desbuquois dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mal de Meleda: recessive transgressive palmoplantar keratoderma with three unusual facultative features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mal de Meleda: a report of four cases from the United Arab Emirates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in hospital births in Bahrain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

The spectrum of beta thalassaemia mutations in the UAE national population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Novel genotype of mevalonic aciduria with fatalities in premature siblings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mutations in PYCR1 cause cutis laxa with progeroid features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Use of isolated inbred human populations for identification of disease genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Congenital insensitivity to pain with anhidrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

CTGA: the database for genetic disorders in Arab populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Consanguinity and reproductive health among Arabs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Autosomal recessive disorders among Arabs: an overview from Kuwait

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Meckel syndrome and neural tube defects in Kuwait

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Molecular study of 33 families with Fraser syndrome new data and mutation review.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Frequency and clinical significance of erythrocyte genetic abnormalities in Omanis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21232

7 January 2021

Identifiers

DOI

10.1002/HUMU.21232

1 reference

22 August 2017

1 reference

PubMed ID

20437613