Published in Am J Med Genet on January 02, 1996
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. Am J Hum Genet (2006) 1.60
Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. J Med Genet (2001) 1.43
Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. Am J Hum Genet (2000) 1.12
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. Mol Syndromol (2016) 0.75
Cerebral sinovenous thrombosis in children. N Engl J Med (2001) 4.81
The 'first to perish'. Child euthanasia in the Third Reich. Arch Pediatr Adolesc Med (1998) 2.34
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
Hypogonadotropic hypogonadism, mental retardation, obesity and minor skeletal abnormalities: another new autosomal recessive syndrome from the Middle East. Am J Med Genet (1986) 1.92
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
Keutel syndrome: further characterization and review. Am J Med Genet (1998) 1.69
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. Acta Paediatr (2003) 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
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
Elevated dopa decarboxylase activity in living brain of patients with psychosis. Proc Natl Acad Sci U S A (1994) 1.30
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
Sandrow syndrome of mirror hands and feet and facial abnormalities. Am J Med Genet (1993) 1.08
Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype. J Med Genet (1999) 1.08
Anencephaly: disappearing in Kuwait? Lancet (1984) 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
Severe bronchopulmonary dysplasia increases risk for later neurological and motor sequelae in preterm survivors. Dev Med Child Neurol (2000) 1.03
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. Clin Genet (2008) 1.01
Poland sequence with dextrocardia: which comes first? Am J Med Genet (1997) 1.01
Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs. J Med Genet (1986) 0.98
Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion. Am J Med Genet (1995) 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
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
Multiple pterygium syndrome in five Arab sibs. Ann Genet (1987) 0.93
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
Deletion of 22q11 in two brothers with different phenotype. Am J Med Genet (1998) 0.89
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
Costello or facio-cutaneous-skeletal syndrome? Am J Med Genet (1993) 0.86
Prevalence of cerebral palsy in Quebec: alternative approaches. Neuroepidemiology (2013) 0.85
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
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. Brain (1994) 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
Rett syndrome: a mitochondrial disease? J Child Neurol (1990) 0.84
Hypoplastic tibiae with postaxial polysyndactyly: a new dominant syndrome? J Med Genet (1987) 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
Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). Clin Dysmorphol (1994) 0.83
What syndrome is this? Chondroectodermal dysplasia--the Ellis-van Creveld syndrome. Pediatr Dermatol (2001) 0.83
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. Cancer Res (1998) 0.83
Klinefelter's syndrome, mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a case report. Ann Genet (1986) 0.83
Urofacial syndrome. Am J Med Genet (1989) 0.82
Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization. Am J Med Genet (1998) 0.81
Multiple pterygium syndrome: a relatively common disorder among Arabs. J Med Genet (1990) 0.81
The second family with Spahr-type metaphyseal chondrodysplasia: autosomal recessive inheritance confirmed. Clin Genet (1990) 0.80
Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome. Am J Med Genet (2001) 0.80
Proton magnetic resonance spectroscopy: an emerging technology in pediatric neurology research. Pediatr Res (1998) 0.79
Primary hypomagnesaemia. A case report and literature review. Eur J Pediatr (1987) 0.79
Multimodality evoked potential findings in infants with congenital heart defects. J Child Neurol (1999) 0.79
Mosaicism 45,X/46,X, t dic(Xp:Xp) in a girl with short stature. Ann Genet (1990) 0.79
Congenital bilateral perisylvian polymicrogyria presenting as congenital hemiplegia. Neurology (1998) 0.79
Frequent relapser minimal change nephrosis: an unrecognized X-linked disorder? Eur J Pediatr (1989) 0.79
Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene. Mol Genet Metab (2004) 0.79
Complex chromosomal rearrangement involving chromosomes 11, 13, 14 and 18 resulting in monosomy for 13q32----qter. Ann Genet (1985) 0.79
Rehabilitation service utilization in children and youth with cerebral palsy. Child Care Health Dev (2013) 0.78
Developmental anomalies suggestive of the human homologue of the mouse mutant disorganization. Am J Med Genet (1995) 0.78
GABA changes with vigabatrin in the developing human brain. Epilepsia (1999) 0.78
Mixed gonadal dysgenesis and sex chromosome mosaicism with multiple cell lines including structural aberrations of the Y chromosome. Clin Genet (1983) 0.78
Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome? Am J Med Genet (1997) 0.78
Congenital heart disease in Robinow syndrome. Am J Med Genet (1998) 0.78
Metabolic alkalosis in cystic fibrosis: atypical presentation in Kuwait. Ann Trop Paediatr (1988) 0.78
Abnormal mitochondria in the Rett syndrome. Brain Dev (1988) 0.78
Asthma knowledge and behaviours among mothers of asthmatic children in Aseer, south-west Saudi Arabia. East Mediterr Health J (2010) 0.78
Autosomal recessive inheritance of intestinal atresia. J R Soc Med (1983) 0.78
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. Clin Dysmorphol (2000) 0.78
FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype. Am J Med Genet (1994) 0.78
Intrafamilial phenotypic variability in citrullinaemia: report of a family. J Inherit Metab Dis (1988) 0.77
Primary hypomagnesaemia, an X-borne allele? Lancet (1983) 0.77
Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome? J Med Genet (2002) 0.77
Severe short-limb dwarfism resembling Grebe chondrodysplasia. Hum Genet (1986) 0.77
Respect for autonomy in the healthcare context: observations from a qualitative study of young adults with cerebral palsy. Child Care Health Dev (2012) 0.77
Familial fragile secondary constriction on chromosome 2 (2q11) with unusual features and psychomotor retardation. Indian J Pediatr (1991) 0.77
Congenital hypothyroidism in Kuwait. J Trop Pediatr (1989) 0.77
Bone dysplasias: an introduction. Can Assoc Radiol J (1998) 0.77
Dyskeratosis congenita: an autosomal recessive variant. Am J Med Genet (1999) 0.76
Apple peel syndrome in sibs. J Med Genet (1989) 0.76
Cystic fibrosis and Helicobacter pylori gastritis, megaloblastic anaemia, subnormal mentality and minor anomalies in two siblings: a new syndrome? Eur J Pediatr (1991) 0.76
Nonsyndromal microphthalmia. Clin Genet (1989) 0.76
Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot? Am J Med Genet (1990) 0.76
Down syndrome in Kuwait. Am J Med Genet Suppl (1990) 0.76
Macrosomia, microphthalmia, and early rapid or sudden infant death: a new syndrome? Pediatrics (1989) 0.76