PubRank

A S Teebi

Author PubWeight™ 90.30‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 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
2 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
3 High incidence of Bardet Biedl syndrome among the Bedouin. Clin Genet 1989 1.91
4 Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. J Med Genet 1985 1.84
5 Consanguinity among the Kuwaiti population. Clin Genet 1985 1.72
6 A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. Acta Paediatr 2003 1.60
7 Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. Clin Genet 1988 1.59
8 New syndrome?: MCA/MR syndrome with multiple circumferential skin creases. Am J Med Genet 1996 1.53
9 Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia. Am J Med Genet 1992 1.40
10 Nablus mask-like facial syndrome. Am J Med Genet 2000 1.39
11 A boy with the Rett syndrome? Brain Dev 1990 1.38
12 Autosomal recessive nonsyndromal microcephaly with normal intelligence. Am J Med Genet 1987 1.36
13 Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile. J Med Genet 1996 1.34
14 Congenital heart defects in Sotos syndrome. Am J Med Genet 1998 1.23
15 The effect of consanguineous marriages on reproductive wastage. Clin Genet 1986 1.22
16 Autosomal dominant sneezing disorder provoked by fullness of stomach. J Med Genet 1989 1.19
17 Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome). J Med Genet 1994 1.16
18 Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs. Clin Exp Rheumatol 2005 1.14
19 Nonsyndromal anencephaly: possible autosomal recessive variant. Am J Med Genet 1986 1.13
20 Sandrow syndrome of mirror hands and feet and facial abnormalities. Am J Med Genet 1993 1.08
21 Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype. J Med Genet 1999 1.08
22 Anencephaly: disappearing in Kuwait? Lancet 1984 1.07
23 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
24 Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. Clin Genet 2008 1.01
25 Poland sequence with dextrocardia: which comes first? Am J Med Genet 1997 1.01
26 Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs. J Med Genet 1986 0.98
27 Brachmann-de Lange syndrome in sibs. J Med Genet 1987 0.97
28 Limb/pelvis/uterus-hypoplasia/aplasia syndrome. J Med Genet 1993 0.97
29 Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects. Am J Med Genet 2001 0.96
30 Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. Clin Genet 2007 0.96
31 Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23----q25. J Med Genet 1986 0.95
32 Autosomal dominant idiopathic scoliosis? Am J Med Genet 1995 0.94
33 Multiple pterygium syndrome in five Arab sibs. Ann Genet 1987 0.93
34 Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J 1999 0.92
35 Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females. Am J Med Genet 1985 0.92
36 Autosomal recessive nonsyndromal hydrocephalus. Am J Med Genet 1988 0.90
37 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
38 A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. Clin Genet 2005 0.88
39 Rett syndrome: genetic clues based on mitochondrial changes in muscle. Am J Med Genet 1989 0.87
40 Costello or facio-cutaneous-skeletal syndrome? Am J Med Genet 1993 0.86
41 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
42 Meckel syndrome and neural tube defects in Kuwait. J Med Genet 1992 0.85
43 Phenylketonuria in Kuwait and Arab countries. Eur J Pediatr 1987 0.84
44 Rett syndrome: a mitochondrial disease? J Child Neurol 1990 0.84
45 Hypoplastic tibiae with postaxial polysyndactyly: a new dominant syndrome? J Med Genet 1987 0.84
46 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
47 Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). Clin Dysmorphol 1994 0.83
48 Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. Cancer Res 1998 0.83
49 What syndrome is this? Chondroectodermal dysplasia--the Ellis-van Creveld syndrome. Pediatr Dermatol 2001 0.83
50 Klinefelter's syndrome, mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a case report. Ann Genet 1986 0.83
51 Autosomal dominant Russell-Silver syndrome. Am J Med Genet 1996 0.82
52 Urofacial syndrome. Am J Med Genet 1989 0.82
53 Multiple pterygium syndrome: a relatively common disorder among Arabs. J Med Genet 1990 0.81
54 Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization. Am J Med Genet 1998 0.81
55 The second family with Spahr-type metaphyseal chondrodysplasia: autosomal recessive inheritance confirmed. Clin Genet 1990 0.80
56 Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome. Am J Med Genet 2001 0.80
57 Primary hypomagnesaemia. A case report and literature review. Eur J Pediatr 1987 0.79
58 Frequent relapser minimal change nephrosis: an unrecognized X-linked disorder? Eur J Pediatr 1989 0.79
59 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
60 Mosaicism 45,X/46,X, t dic(Xp:Xp) in a girl with short stature. Ann Genet 1990 0.79
61 Complex chromosomal rearrangement involving chromosomes 11, 13, 14 and 18 resulting in monosomy for 13q32----qter. Ann Genet 1985 0.79
62 Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome? Am J Med Genet 1997 0.78
63 Developmental anomalies suggestive of the human homologue of the mouse mutant disorganization. Am J Med Genet 1995 0.78
64 Abnormal mitochondria in the Rett syndrome. Brain Dev 1988 0.78
65 Metabolic alkalosis in cystic fibrosis: atypical presentation in Kuwait. Ann Trop Paediatr 1988 0.78
66 Congenital heart disease in Robinow syndrome. Am J Med Genet 1998 0.78
67 Autosomal recessive inheritance of intestinal atresia. J R Soc Med 1983 0.78
68 New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. Clin Dysmorphol 2000 0.78
69 Mixed gonadal dysgenesis and sex chromosome mosaicism with multiple cell lines including structural aberrations of the Y chromosome. Clin Genet 1983 0.78
70 FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype. Am J Med Genet 1994 0.78
71 Intrafamilial phenotypic variability in citrullinaemia: report of a family. J Inherit Metab Dis 1988 0.77
72 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
73 Bone dysplasias: an introduction. Can Assoc Radiol J 1998 0.77
74 Primary hypomagnesaemia, an X-borne allele? Lancet 1983 0.77
75 Congenital hypothyroidism in Kuwait. J Trop Pediatr 1989 0.77
76 Familial fragile secondary constriction on chromosome 2 (2q11) with unusual features and psychomotor retardation. Indian J Pediatr 1991 0.77
77 Severe short-limb dwarfism resembling Grebe chondrodysplasia. Hum Genet 1986 0.77
78 Macrosomia, microphthalmia, and early rapid or sudden infant death: a new syndrome? Pediatrics 1989 0.76
79 Down syndrome in Kuwait. Am J Med Genet Suppl 1990 0.76
80 Possible evidence for genetic predisposition to nondisjunction in man. J Med Genet 1988 0.76
81 Nonsyndromal microphthalmia. Clin Genet 1989 0.76
82 Siblings with a progressive neurodegenerative condition associated with basal ganglia calcifications, retinitis pigmentosa and decreased levels of fucosidase--a new presentation? J Inherit Metab Dis 1987 0.76
83 Apple peel syndrome in sibs. J Med Genet 1989 0.76
84 Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot? Am J Med Genet 1990 0.76
85 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
86 Dyskeratosis congenita: an autosomal recessive variant. Am J Med Genet 1999 0.76
87 Not a new Seckel-like syndrome but ear-patella-short stature syndrome. Am J Med Genet 1997 0.75
88 Kuwait type faciodigitogenital syndrome. J Med Genet 1991 0.75
89 Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. Clin Genet 2009 0.75
90 Familial uterine hernia syndrome: report of an Arab family with four affected males. Am J Med Genet 1989 0.75
91 Naguib-Richieri-Costa syndrome: hypertelorism, hypospadias, and polysyndactyly syndrome. Am J Med Genet 1992 0.75
92 Further evidence of autosomal dominant inheritance of the nonsyndromal anorectal malformations. Am J Med Genet 1998 0.75
93 Uncle-niece/aunt-nephew marriages are not existing in Muslim Arabs. Am J Med Genet 1988 0.75
94 Autosomal recessive epidermolytic palmoplantar keratoderma. J Med Genet 1990 0.75
95 Intestinal malformations and Down's syndrome in Arabs. J R Soc Med 1987 0.75
96 De novo partial monosomy 21 with unusual karyotype. Jinrui Idengaku Zasshi 1986 0.75
97 Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome? Clin Dysmorphol 2001 0.75
98 Craniofacial dysmorphism, agenesis of the corpus callosum and ocular colobomas: Temtamy syndrome? Clin Dysmorphol 2000 0.75
99 Male triplets concordant for X-linked recessive nonsyndromic hypoparathyroidism. Eur J Pediatr 1992 0.75
100 Haplotype analysis and a new MspI-polymorphism at the phenylalanine hydroxylase gene in the Arabian population. Eur J Pediatr 1994 0.75
101 Choanal and ileal atresia: a new syndrome or association? Int J Pediatr Otorhinolaryngol 1999 0.75
102 Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome? Am J Med Genet 2001 0.75
103 Another case of the human homologue of the mouse mutant disorganization. Am J Med Genet 1996 0.75
104 Further examples of autosomal dominant transmission of nonsyndromic aplasia cutis congenita. Am J Med Genet 1997 0.75
105 Ullrich-Turner syndrome in monozygotic twins. Am J Med Genet 1983 0.75