Ahmad Teebi
Palestinian Canadian geneticist
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Biology
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(Suggest an Edit or Addition)According to Wikipedia, Ahmad Said Teebi was a Palestinian, born in Lebanon, clinical geneticist who studied and practiced in several countries, ending his career in Canada and the United States. Biography Teebi was born in Beirut, Lebanon, to a family of Palestinian origin. He received his primary education in Lebanon and in Kuwait. He obtained his medical degree from Cairo University , then studied Pediatrics in Kuwait. He studied at University College of Dublin in 1976–77, receiving a Diploma of Child Health in 1977. He began his medical residency at the Kuwait Medical Genetics Center , then completed it at the University of British Columbia , and in the United States at Yale University . In 1983, Teebi received a DHCG from the London School of Hygiene and Tropical Medicine.
Ahmad Teebi's Published Works
Published Works
- Structural variation of chromosomes in autism spectrum disorder. (2008) (1740)
- Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) (397)
- Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes (2007) (295)
- Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation (2002) (265)
- Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. (1989) (202)
- Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. (2003) (171)
- High incidence of Bardet Biedl syndrome among the Bedouin (1989) (166)
- Consanguinity among the Kuwaiti population (1985) (165)
- Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects (2010) (147)
- Consanguineous Marriages and Their Effects on Common Adult Diseases: Studies from an Endogamous Population (2007) (122)
- Autosomal recessive disorders among Arabs: an overview from Kuwait. (1994) (119)
- Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome). (1994) (118)
- Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers–Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (β4GalT-7) (2006) (114)
- A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type (2004) (108)
- The effect of consanguineous marriages on reproductive wastage (1986) (97)
- Genetic analysis of patients with the Saethre-Chotzen phenotype. (2002) (82)
- Genetic Diversity among the Arabs (2005) (78)
- Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile. (1996) (74)
- Genetic disorders among Arab populations (2010) (68)
- Detecting rearrangements in children using subtelomeric FISH and SKY. (2002) (65)
- Keutel syndrome: further characterization and review. (1998) (62)
- Novel mutation in the gene encoding c‐Abl‐binding protein SH3BP2 causes cherubism (2003) (56)
- Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. (2010) (55)
- Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. (2002) (55)
- Molecular and cytogenetic characterization of 9p- abnormalities. (1993) (54)
- Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. (1985) (53)
- Poland sequence with dextrocardia: which comes first? (1997) (51)
- Consanguinity: implications for practice, research, and policy (2006) (51)
- Abnormal mitochondria in the Rett syndrome (1988) (49)
- Autosomal recessive Robinow syndrome. (1990) (46)
- Clinical and genetic aspects of trigonocephaly: A study of 25 cases (2002) (45)
- Aarskog syndrome: report of a family with review and discussion of nosology. (1993) (43)
- Further delineation of Costello syndrome. (1993) (41)
- Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females. (1985) (41)
- Impact of consanguinity on cancer in a highly endogamous population. (2009) (38)
- Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). (1994) (37)
- Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23----q25. (1986) (37)
- Autosomal recessive nonsyndromal microcephaly with normal intelligence. (1987) (37)
- Rett syndrome: genetic clues based on mitochondrial changes in muscle. (1989) (36)
- The incidence patterns of Down syndrome in Qatar (2006) (35)
- Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs. (2005) (34)
- Additional EFNB1 mutations in craniofrontonasal syndrome (2008) (33)
- Arab genetic disease database (AGDDB): A population‐specific clinical and mutation database (2002) (30)
- Phenotypic heterogeneity in Woodhouse–Sakati syndrome: Two new families with a mutation in the C2orf37 gene (2011) (30)
- Autosomal dominant Russell-Silver syndrome. (1996) (30)
- Autosomal recessive nonsyndromal hydrocephalus. (1988) (29)
- Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I (2010) (29)
- FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype. (1994) (28)
- New syndrome?: MCA/MR syndrome with multiple circumferential skin creases. (1996) (28)
- Genomic deletions of OFD1 account for 23% of oral‐facial‐digital type 1 syndrome after negative DNA sequencing (2009) (28)
- A boy with the Rett syndrome? (1990) (28)
- Sandrow syndrome of mirror hands and feet and facial abnormalities. (1993) (28)
- Familial uterine hernia syndrome: report of an Arab family with four affected males. (1989) (28)
- Meckel syndrome and neural tube defects in Kuwait. (1992) (27)
- Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33). (1983) (27)
- Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs. (1986) (27)
- New autosomal recessive faciodigitogenital syndrome. (1988) (27)
- Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. (2002) (26)
- Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects. (2001) (25)
- Down syndrome in Kuwait. (2005) (24)
- The Prevalence of Attention Deficit Hyperactivity Symptoms in Schoolchildren in a Highly Consanguineous Community (2008) (24)
- Alagille syndrome with de novo del(20) (p11.2). (1992) (24)
- Autosomal dominant idiopathic scoliosis? (1995) (23)
- Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. (1988) (23)
- Autosomal recessive Silver-Russell syndrome. (1992) (22)
- Possible evidence for genetic predisposition to nondisjunction in man. (1988) (21)
- Dyskeratosis congenita: an autosomal recessive variant. (1999) (21)
- Structural central nervous system (CNS) anomalies in Kabuki syndrome (2005) (21)
- New autosomal dominant syndrome resembling craniofrontonasal dysplasia. (1987) (20)
- Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis. (1991) (20)
- Phenylketonuria in Kuwait and Arab countries (2004) (20)
- Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization. (1998) (20)
- Total anonychia congenita and microcephaly with normal intelligence: a new autosomal-recessive syndrome? (1996) (20)
- Cancer in Sotos syndrome: report of a patient with acute myelocytic leukemia and review of the literature. (2004) (19)
- ANENCEPHALY: DISAPPEARING IN KUWAIT? (1984) (19)
- Congenital heart defects in Sotos syndrome. (1998) (19)
- Nonsyndromal anencephaly: possible autosomal recessive variant. (1986) (19)
- Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage. (1989) (17)
- Nablus mask-like facial syndrome. (2000) (17)
- A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin (2009) (17)
- A new autosomal recessive disorder resembling Weaver syndrome. (1989) (17)
- Prevalence of congenital adrenal hyperplasia in Kuwait (1990) (16)
- Congenital heart disease in Robinow syndrome. (1998) (15)
- Limb/pelvis/uterus-hypoplasia/aplasia syndrome. (1993) (15)
- Autosomal dominant sneezing disorder provoked by fullness of stomach. (1989) (15)
- PRIMARY HYPOMAGNESAEMIA, AN X-BORNE ALLELE? (1983) (15)
- Brachmann-de Lange syndrome in sibs. (1987) (15)
- 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. (2004) (14)
- Hypoplastic tibiae with postaxial polysyndactyly: a new dominant syndrome? (1987) (14)
- Costello or facio-cutaneous-skeletal syndrome? (1993) (13)
- Multiple pterygium syndrome: a relatively common disorder among Arabs. (1990) (13)
- Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome (2000) (13)
- What syndrome is this? Chondroectodermal dysplasia--the Ellis-van Creveld syndrome. (2001) (12)
- Metabolic alkalosis in cystic fibrosis: atypical presentation in Kuwait. (1988) (12)
- Primary hypomagnesaemia (1987) (12)
- De novo partial monosomy 21 with unusual karyotype (1986) (12)
- Transverse limb defects associated with aorto-pulmonary vascular abnormalities: vascular disruption sequence or atypical presentation of Adams-Oliver syndrome? (2000) (12)
- Teebi hypertelorism syndrome: report of a family with previously unrecognized findings. (2002) (11)
- Apple peel syndrome in sibs. (1989) (11)
- Developmental anomalies suggestive of the human homologue of the mouse mutant disorganization. (1995) (11)
- Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome? (1998) (10)
- The germinating seed of Arab genomics (2006) (10)
- Klinefelter's syndrome, mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a case report. (1986) (10)
- Kuwait type faciodigitogenital syndrome. (1991) (10)
- Introduction: Genetic Diversity Among Arabs (2010) (10)
- Further delineation of the Van den Ende–Gupta syndrome (2010) (10)
- Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia. (1992) (10)
- Another case of the human homologue of the mouse mutant disorganization. (1996) (9)
- Not a new Seckel-like syndrome but ear-patella-short stature syndrome. (1997) (9)
- Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome (2004) (9)
- Cystic fibrosis and Helicobacter pylori gastritis, megaloblastic anaemia, subnormal mentality and minor anomalies in two siblings: a new syndrome? (1991) (9)
- Naguib-Richieri-Costa syndrome: hypertelorism, hypospadias, and polysyndactyly syndrome. (1992) (9)
- Uncle-niece/aunt-nephew marriages are not existing in Muslim Arabs. (1988) (8)
- Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome? (1997) (8)
- The second family with Spahr-type metaphyseal chondrodysplasia: autosomal recessive inheritance confirmed. (2008) (8)
- Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot? (1990) (7)
- Complex chromosomal rearrangement involving chromosomes 11, 13, 14 and 18 resulting in monosomy for 13q32----qter. (1985) (7)
- Urofacial syndrome. (1989) (7)
- Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia in sibs. (1991) (7)
- Hypogonadotropic hypogonadism, mental retardation, obesity and minor skeletal abnormalities: another new autosomal recessive syndrome from the Middle East. (1986) (7)
- Multiple pterygium syndrome in five Arab sibs. (1987) (7)
- Further examples of autosomal dominant transmission of nonsyndromic aplasia cutis congenita. (1997) (6)
- Syndromal and Nonsyndromal Cleft Lip with or without Cleft Palate in Kuwait (1989) (6)
- Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome? (2001) (6)
- Intestinal malformations and Down's syndrome in Arabs (1987) (6)
- Frequent relapser minimal change nephrosis: An unrecognized X-linked disorder? (1989) (6)
- Craniofacial anomalies, humero‐radial synostosis, rhizomelic limb shortness: Previously unrecognized autosomal recessive syndrome (2007) (6)
- Congenital hypothyroidism in Kuwait. (1989) (6)
- Autosomal recessive epidermolytic palmoplantar keratoderma. (1990) (6)
- New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. (2000) (5)
- 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? (2002) (5)
- Monozygotic Twins Concordant for Bardet-Biedl Syndrome and Benign Acanthosis nigricans (1989) (5)
- Craniofacial dysmorphism, agenesis of the corpus callosum and ocular colobomas: Temtamy syndrome? (2000) (5)
- Choanal and ileal atresia: a new syndrome or association? (1999) (4)
- Severe short-limb dwarfism resembling Grebe chondrodysplasia (1986) (4)
- Further evidence of autosomal dominant inheritance of the nonsyndromal anorectal malformations. (1998) (4)
- Ullrich-Turner syndrome in monozygotic twins. (1983) (4)
- Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome. (2001) (4)
- Differences between Nablus Mask‐Like Facial syndrome and Blepharo‐Naso‐Facial syndrome (2001) (3)
- Familial fragile secondary constriction on chromosome 2 (2q11) with unusual features and psychomotor retardation (1990) (3)
- The pattern of neural tube defects in a highly endogamous society: A 25-year incidence trends (2012) (3)
- Velo-facio-skeletal syndrome in a mother and daughter. (1995) (3)
- Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance. (2002) (3)
- Recent advances in molecular genetics of the Maghreb and the Middle East populations: The first Middle East Genetics Association of America (MEGA) conference (1998) (3)
- A clinical guide to inherited metabolic diseases (1998) (2)
- Macrosomia, microphthalmia, and early rapid or sudden infant death: a new syndrome? (1989) (2)
- Haplotype analysis and a newMspl-polymorphism at the phenylalanine hydroxylase gene in the Arabian population (1994) (2)
- Mosaicism 45,X/46,X, t dic(Xp:Xp) in a girl with short stature. (1990) (2)
- Structural Abnormalities of the Y Chromosome Associated with Hypospadias, Infertility, and Short Stature (1989) (2)
- Central pulverulent (Coppock) cataracts. A sibship of two Arab females with full-cousin normal parents. (1991) (2)
- Intrafamilial Variability of the Syndrome of Renal Tubular Acidosis and Sensorineural Deafness (1990) (2)
- Fatal Fulminant Hepatitis in Wilson's Disease: Report of Two Cases (1989) (2)
- Genetic Disorders in Qatar (2010) (2)
- Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype (1999) (2)
- Naming of a syndrome: The story of “Adam Wright” syndrome (2004) (2)
- 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? (2001) (1)
- New Syndromes First Reported Among Arabs (2010) (1)
- Response to correspondence from Gripp et al.—“clinical and molecular diagnosis should be consistent” (2003) (1)
- Lissencephaly, IgG subclass immunodeficiency, and a connective tissue disorder: a new syndrome? (2009) (1)
- Genetic Disorders Among the Palestinians (2010) (1)
- Autosomal Recessive Traits and Diseases (2006) (1)
- Letter to the Editors (1990) (1)
- Clustering of Major Chromosomal Abnormalities among Unselected Sterile Men in Kuwait (1989) (1)
- Male triplets concordant for X-linked recessive nonsyndromic hypoparathyroidism (1992) (1)
- Progressive erosive arthropathy with contractures, multicentric osteolysis-like changes, characteristic craniofacial appearance, and dermatological abnormalities: a new syndrome? (2001) (0)
- Medical genetics:present and future (1997) (0)
- Subject Index Vol. 17, 2008 (2008) (0)
- nondisjunction in man . predisposition to Possible evidence for genetic (2004) (0)
- LETTERS TO THE EDITOR Male infertility as the only presenting sign of cystic fibrosis when Molecularcharacterisation of a thalassaemia heterozygotes in Brazil (0)
- A Syndrome Resemble to CODAS: The First Reported Iranian Girl (2008) (0)
- Reply to Ruiter et al.: A possible example of acrofacial dysostosis type Kennedy–Teebi (2005) (0)
- Prenatal diagnosis of fragile X syndrome: identification of a male fetus mosaic for a premutation on chorionic villus sampling - management and follow-up (2000) (0)
- Craniosynostosis, ectopia lentis and congenital heart defect: further delineation of an autosomal dominant syndrome with reduced penetrance (2000) (0)
- True and Pseudohermaphroditism: A Decade of Experience in Kuwait (1992) (0)
- Newautosomal recessive faciodigitogenit al syndrome (1988) (0)
- Medical genetics: A self-instruction guide and workbook based on Mendelian Inheritance in Man By Victor A. McKusick. Baltimore, Johns Hopkins, 1993, paperback spiralbound $30.00 (125 pages), ISBN 0-8018-4796-4 (1994) (0)
- Contents Vol. 17, 2008 (2008) (0)
- Influences of Systems’ Resources and Health Risk Factors on Genetic Services (2010) (0)
- De novo partial duplication 7(q11.2{r_arrow}q21.2) in a dysmorphic, developmentally retarded boy (1994) (0)
- Erythrophagocytic Lymphohistiocytosis: A Case Report (1988) (0)
- western city : inbreeding and disease profile . Genetic referrals of Middle Eastern origin in a (2004) (0)
- The Arab Genetic Disease Database: A national database of genetic disorders (2000) (0)
- Reviewer Acknowledgment (2013) (0)
- Findings in LRP2 mutation positive versus LRP2 mutation negative cases referred for DBS (2008) (0)
- Contents, Vol. 1, 1989 (1989) (0)
- Arab genetic disease database (AGDDB): a population specific clinical genetic database (2002) (0)
- List of Reviewers Vol. 17, 2008 (2008) (0)
- Genetic disorders of the Indian subcontinent. Edited by Dhavendra Kumar. Dordrecht, The Netherlands: Kluwer Academinc Publishers, 2004. 608 p.† (2008) (0)
- A novel homozygous recessive mutation in the galactosyltransferase-I (B4GALT7) gene in individuals resembling the progeroid type of Ehlers-Danlos syndrome (2003) (0)
- Distal 10q Trisomy: A Clinically Recognizable Syndrome (1989) (0)
- Subject Index, Vol. 1, 1989 (1989) (0)
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