Published in Ann Genet on January 01, 1990
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. J Med Genet (1998) 2.62
Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. J Pediatr (1989) 2.25
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High incidence of Bardet Biedl syndrome among the Bedouin. Clin Genet (1989) 1.91
Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. J Med Genet (1985) 1.84
Consanguinity among the Kuwaiti population. Clin Genet (1985) 1.72
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. Acta Paediatr (2003) 1.60
Percutaneous catheterisation of the internal jugular vein. Anaesthesia (1969) 1.60
Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. Clin Genet (1988) 1.59
New syndrome?: MCA/MR syndrome with multiple circumferential skin creases. Am J Med Genet (1996) 1.53
Quality of life of dialysis patients in Malaysia. Med J Malaysia (2006) 1.44
Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia. Am J Med Genet (1992) 1.40
Nablus mask-like facial syndrome. Am J Med Genet (2000) 1.39
A boy with the Rett syndrome? Brain Dev (1990) 1.38
Autosomal recessive nonsyndromal microcephaly with normal intelligence. Am J Med Genet (1987) 1.36
Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile. J Med Genet (1996) 1.34
Spondyloepiphyseal dysplasia tarda with progressive arthropathy. J Med Genet (1984) 1.24
Congenital heart defects in Sotos syndrome. Am J Med Genet (1998) 1.23
The effect of consanguineous marriages on reproductive wastage. Clin Genet (1986) 1.22
Autosomal dominant sneezing disorder provoked by fullness of stomach. J Med Genet (1989) 1.19
Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome). J Med Genet (1994) 1.16
Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs. Clin Exp Rheumatol (2005) 1.14
Nonsyndromal anencephaly: possible autosomal recessive variant. Am J Med Genet (1986) 1.13
Genotypic/phenotypic heterogeneity of Kenny-Caffey syndrome. J Med Genet (1998) 1.11
Sandrow syndrome of mirror hands and feet and facial abnormalities. Am J Med Genet (1993) 1.08
Ultrastructural studies on the peritoneum with special reference to chronic ambulatory peritoneal dialysis. Scott Med J (1981) 1.08
Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype. J Med Genet (1999) 1.08
Anencephaly: disappearing in Kuwait? Lancet (1984) 1.07
Distribution of blood pressure in a national sample of Malaysian adults. Med J Malaysia (2000) 1.07
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). Clin Genet (2002) 1.04
Distribution of body weight, height and body mass index in a national sample of Malaysian adults. Med J Malaysia (2000) 1.03
Poland sequence with dextrocardia: which comes first? Am J Med Genet (1997) 1.01
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. Clin Genet (2008) 1.01
Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs. J Med Genet (1986) 0.98
Limb/pelvis/uterus-hypoplasia/aplasia syndrome. J Med Genet (1993) 0.97
Brachmann-de Lange syndrome in sibs. J Med Genet (1987) 0.97
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. Clin Genet (2007) 0.96
Profile of major congenital malformations in neonates in Al-Jahra region of Kuwait. East Mediterr Health J (2005) 0.96
Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects. Am J Med Genet (2001) 0.96
Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23----q25. J Med Genet (1986) 0.95
Autosomal dominant idiopathic scoliosis? Am J Med Genet (1995) 0.94
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Multiple pterygium syndrome in five Arab sibs. Ann Genet (1987) 0.93
Trisomy 18 in Kuwait. Int J Epidemiol (1999) 0.92
Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33). J Med Genet (1983) 0.92
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J (1999) 0.92
Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females. Am J Med Genet (1985) 0.92
Autosomal recessive nonsyndromal hydrocephalus. Am J Med Genet (1988) 0.90
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. J Med Genet (2000) 0.90
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. Clin Genet (2005) 0.88
Rett syndrome: genetic clues based on mitochondrial changes in muscle. Am J Med Genet (1989) 0.87
Percutaneous cannulation of the internal jugular vein. Thorax (1969) 0.87
Recombinational loss of a ribosomal DNA unit from the circular episome of Entamoeba histolytica HM-1:IMSS. Mol Biochem Parasitol (2001) 0.87
Cross-cultural adaptation and validation of the English version of the International Index of Erectile Function (IIEF) for use in Malaysia. Int J Impot Res (2003) 0.86
Costello or facio-cutaneous-skeletal syndrome? Am J Med Genet (1993) 0.86
Transverse limb defects associated with aorto-pulmonary vascular abnormalities: vascular disruption sequence or atypical presentation of Adams-Oliver syndrome? Am J Med Genet (2000) 0.85
Meckel syndrome and neural tube defects in Kuwait. J Med Genet (1992) 0.85
Phenylketonuria in Kuwait and Arab countries. Eur J Pediatr (1987) 0.84
Hypoplastic tibiae with postaxial polysyndactyly: a new dominant syndrome? J Med Genet (1987) 0.84
Membranous glomerulopathy and acute interstitial nephritis following treatment with celecoxib. Clin Nephrol (2003) 0.84
Rett syndrome: a mitochondrial disease? J Child Neurol (1990) 0.84
The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23. Clin Genet (2004) 0.83
The association of cystic fibrosis with homocystinura in two Saudi siblings. Eur J Pediatr (1996) 0.83
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. Cancer Res (1998) 0.83
What syndrome is this? Chondroectodermal dysplasia--the Ellis-van Creveld syndrome. Pediatr Dermatol (2001) 0.83
Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. J Med Genet (1988) 0.83
Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). Clin Dysmorphol (1994) 0.83
Fatal Campylobacter jejuni infection in a patient splenectomised for thalassaemia. J Clin Pathol (1997) 0.83
Klinefelter's syndrome, mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a case report. Ann Genet (1986) 0.83
Aspects of assessment and management of velopharyngeal dysfunction in developing countries. Folia Phoniatr Logop (1997) 0.82
Prolonged and secondary fever in childhood bacterial meningitis. Eur J Pediatr (1989) 0.82
Association of C-reactive protein with coronary heart disease risk factors in patients with type 2 diabetes mellitus. Diabetes Res Clin Pract (2002) 0.82
Urofacial syndrome. Am J Med Genet (1989) 0.82
Nalidixic acid and trimethoprim/sulphamethoxazole as alternatives for short-term treatment of urinary infections. Ann Trop Paediatr (1986) 0.82
Autosomal dominant Russell-Silver syndrome. Am J Med Genet (1996) 0.82
Genotypic/phenotypic heterogeneity of selective vitamin B12 malabsorption (Grasbeck-Imerslund syndrome) in two Bedouin families. Acta Paediatr (1997) 0.81
Familial pericentric inversion of chromosome 13, 46,XX,inv (13)(p13;q11): a new variant. Ann Genet (1993) 0.81
Multiple pterygium syndrome: a relatively common disorder among Arabs. J Med Genet (1990) 0.81
Prevalence of Toxoplasma gondii and cytomegalovirus antibodies in patients with chronic renal failure. J Egypt Soc Parasitol (1996) 0.81
Effectiveness of sodium valproate in the treatment of Sydenham's chorea. Neurology (1990) 0.81
Fertility with deletion Xq25: report of three cases; possible exceptions for critical region hypothesis. Fertil Steril (1988) 0.81
Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization. Am J Med Genet (1998) 0.81
Plasma leptin concentration in patients with Type 2 diabetes: relationship to cardiovascular disease risk factors and insulin resistance. Diabet Med (2005) 0.81