(Q33673557)

28 July 2017

1 reference

title

Autosomal recessive disorders among Arabs: an overview from Kuwait (English)

1 reference

28 July 2017

Teebi AS

1

1 reference

PubMed ID

8014972

28 July 2017

language of work or name

English

0 references

publication date

1 March 1994

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

31

1 reference

28 July 2017

224-233

1 reference

28 July 2017

3

1 reference

Laurence-Moon-Biedl syndrome in an Arab boy: familial incidence

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Limb/pelvis/uterus-hypoplasia/aplasia syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Further delineation of Costello syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Consanguineous matings in the Egyptian population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Inheritance of idiopathic torsion dystonia among Jews

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Consanguineous marriage among rural Arabs in Israel.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Familial hemophagocytic lymphohistiocytosis (FHLH) in Israel. I. Description of 11 patients of Iranian-Iraqi origin and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Meckel syndrome in different populations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Cousin marriages in Beirut, Lebanon: is the pattern changing?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Richner-Hanhart syndrome (tyrosinaemia-II) (report of four cases without ocular involvement).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Evidence for genetic control of nondisjunction in man.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Spondyloepiphyseal dysplasia tarda with progressive arthropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Toxic-shock syndrome not associated with menstruation. A review of 54 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Laurence-Moon-Bardet-Biedl Syndrome in Israel

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Familial Mediterranean fever. A survey of 470 cases and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Familial paroxysmal polyserositis. Clinical and laboratory findings in 120 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

High incidence of Meckel's syndrome in Gujarati Indians

21 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

21 June 2018

12 December 2020

Consanguinity among the Kuwaiti population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Familial spinocerebellar degeneration with corneal dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Autosomal recessive nonsyndromal microcephaly with normal intelligence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Severe short-limb dwarfism resembling Grebe chondrodysplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Brachmann-de Lange syndrome in sibs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Phenylketonuria in Kuwait and Arab countries

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs. Report of a Bedouin family--a new syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

New autosomal recessive faciodigitogenital syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs--a study of 175 patients and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Uncle-niece/aunt-nephew marriages are not existing in Muslim Arabs.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Siblings with a progressive neurodegenerative condition associated with basal ganglia calcifications, retinitis pigmentosa and decreased levels of fucosidase--a new presentation?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Haemoglobinopathies, thalassaemias and enzymopathies in Saudi Arabia: the present status

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Possible evidence for genetic predisposition to nondisjunction in man

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Apple peel syndrome in sibs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Hypertelorism, proptosis, ptosis, polysyndactyly, hypospadias and normal height in 3 sibs: a new syndrome?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Macrosomia, microphthalmia, +/- cleft palate and early infant death: a new autosomal recessive syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Autosomal dominant sneezing disorder provoked by fullness of stomach

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Ehlers-Danlos syndrome: a new oculo-scoliotic type with associated polyneuropathy?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Congenital chloride diarrhoea in Kuwaiti children

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

High incidence of Bardet Biedl syndrome among the Bedouin.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Childhood muscular dystrophy: an African review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Multiple pterygium syndrome: a relatively common disorder among Arabs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Two brothers with heart defects and limb shortening: case reports and review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Kuwait type faciodigitogenital syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Consanguineous marriage in Jordan

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Meckel syndrome and neural tube defects in Kuwait

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Marked parental consanguinity as a cause for increased major malformations in an Israeli Arab community

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Late diagnosis of phenylketonuria in a Bedouin mother

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Autosomal recessive Silver-Russell syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Familial continual skin peeling.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Hypogonadotropic hypogonadism, mental retardation, obesity and minor skeletal abnormalities: another new autosomal recessive syndrome from the Middle East.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

New autosomal dominant syndrome resembling craniofrontonasal dysplasia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Nonsyndromal microphthalmia.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Congenital hypothyroidism in Kuwait.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Autosomal recessive Robinow syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Teebi hypertelorism syndrome (brachycephalofrontonasal dysplasia) in a U.S. family

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Hypoplastic tibiae with postaxial polysyndactyly in two sibs: further conformation of a new syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049748

Autosomal recessive ataxia, slow eye movements, dementia and extrapyramidal disturbances

30 October 2018

1 reference

12 December 2020

Phenotypic variability in Meckel-Gruber syndrome

1 reference

12 December 2020

The second family with Spahr-type metaphyseal chondrodysplasia: autosomal recessive inheritance confirmed

1 reference

12 December 2020

Chondrodysplasia punctata, tibia-metacarpal (MT) type

1 reference

12 December 2020

Cystic fibrosis and Helicobacter pylori gastritis, megaloblastic anaemia, subnormal mentality and minor anomalies in two siblings: a new syndrome?

1 reference

12 December 2020

Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia in sibs

1 reference

12 December 2020

Central pulverulent (Coppock) cataracts. A sibship of two Arab females with full-cousin normal parents

1 reference

12 December 2020

Aminoacidopathies among institutionalised mentally retarded in Kuwait

1 reference

12 December 2020

1 reference

12 December 2020

Distribution of Sickle-cell Hæmoglobin in Saudi Arabia

1 reference

12 December 2020

1 reference

12 December 2020

Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population

1 reference

12 December 2020

Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage

1 reference

12 December 2020

Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria

1 reference

12 December 2020

Familial uterine hernia syndrome: report of an Arab family with four affected males

1 reference

12 December 2020

A new autosomal recessive disorder resembling Weaver syndrome

1 reference

12 December 2020

Frequent relapser minimal change nephrosis: an unrecognized X-linked disorder?

1 reference

12 December 2020

Nonsyndromal anencephaly: possible autosomal recessive variant

1 reference

12 December 2020

Multiple pterygium syndrome in five Arab sibs

1 reference

12 December 2020

Genetic diseases in Lebanon

1 reference

12 December 2020

Familial Jejunal Atresia with ‘Apple-Peel’ Variant1

1 reference

12 December 2020

Autosomal recessive ?uncomplicated? profound childhood deafness in an arabic family with high consanguinity

1 reference

12 December 2020

Cystic fibrosis in Kuwait

1 reference

12 December 2020

Renal tubular acidosis and osteopetrosis in siblings

1 reference

12 December 2020

Congenital chloride diarrhea

1 reference

12 December 2020

Autosomal recessive nonsyndromal hydrocephalus

1 reference

12 December 2020

Macrosomia, microphthalmia, and early rapid or sudden infant death: a new syndrome?

1 reference

12 December 2020

Metabolic alkalosis in cystic fibrosis: atypical presentation in Kuwait

1 reference

12 December 2020

Autosomal recessive inheritance of intestinal atresia

1 reference

12 December 2020

Cystic fibrosis in Jordan: a pilot study

1 reference

12 December 2020

On business and medicine

1 reference

12 December 2020

Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females

1 reference

12 December 2020

Down syndrome and trisomy 18 in the Bedouins

1 reference

12 December 2020

Osteopetrosis in Saudi children: a report of 10 cases

1 reference

12 December 2020

Congenital hepatic fibrosis without renal involvement

1 reference

12 December 2020

Intrafamilial phenotypic variability in citrullinaemia: report of a family

1 reference

12 December 2020

Prevalence of congenital adrenal hyperplasia in Kuwait

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.3.224

1 reference

28 July 2017

1 reference

28 July 2017

1 reference

PubMed ID

8014972