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Items: 1 to 50 of 174

1.

Using whole-exome sequencing to identify inherited causes of autism.

Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA.

Neuron. 2013 Jan 23;77(2):259-73. doi: 10.1016/j.neuron.2012.11.002.

2.

Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.

Ben-Omran T, Ali R, Almureikhi M, Alameer S, Al-Saffar M, Walsh CA, Felie JM, Teebi A.

Am J Med Genet A. 2011 Nov;155A(11):2647-53. doi: 10.1002/ajmg.a.34219. Epub 2011 Sep 30.

PMID:
21964978
3.

Further delineation of the Van den Ende-Gupta syndrome.

Ali R, Almureikhi M, Al-Musaifri F, Bhat V, Teebi A, Ben-Omran T.

Am J Med Genet A. 2010 Dec;152A(12):3095-100. doi: 10.1002/ajmg.a.33725.

PMID:
21108395
4.

Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.

Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA.

Am J Hum Genet. 2010 Oct 8;87(4):553-9. doi: 10.1016/j.ajhg.2010.09.005.

5.

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.

Wouters V, Limaye N, Uebelhoer M, Irrthum A, Boon LM, Mulliken JB, Enjolras O, Baselga E, Berg J, Dompmartin A, Ivarsson SA, Kangesu L, Lacassie Y, Murphy J, Teebi AS, Penington A, Rieu P, Vikkula M.

Eur J Hum Genet. 2010 Apr;18(4):414-20. doi: 10.1038/ejhg.2009.193. Epub 2009 Nov 4.

6.

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.

Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C.

Clin Genet. 2010 Mar;77(3):258-65. doi: 10.1111/j.1399-0004.2009.01290.x. Epub 2009 Oct 8.

PMID:
19817772
7.

Lissencephaly, IgG subclass immunodeficiency, and a connective tissue disorder: a new syndrome?

Ehlayel MS, Ben-Omran T, Bhat V, Teebi AS.

J Neurol. 2009 Dec;256(12):2087-90. doi: 10.1007/s00415-009-5280-6. Epub 2009 Sep 19. No abstract available.

PMID:
19768484
8.

Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene.

Zaidi SH, Meyer S, Peltekova I, Teebi AS, Faiyaz-Ul-Haque M.

Clin Genet. 2009 Jun;75(6):588-9. doi: 10.1111/j.1399-0004.2009.01165.x. No abstract available.

PMID:
19508422
9.

Impact of consanguinity on cancer in a highly endogamous population.

Bener A, El Ayoubi HR, Chouchane L, Ali AI, Al-Kubaisi A, Al-Sulaiti H, Teebi AS.

Asian Pac J Cancer Prev. 2009 Jan-Mar;10(1):35-40.

10.

Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients.

Wang JC, Dang L, Lomax B, Turner L, Shago M, Teebi AS, Klatt R, MacLeod PM, Yong SL, Nowaczyk MJ, Eydoux P.

Am J Med Genet A. 2009 Mar;149A(3):372-9. doi: 10.1002/ajmg.a.32675.

PMID:
19213033
11.

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.

Thauvin-Robinet C, Franco B, Saugier-Veber P, Aral B, Gigot N, Donzel A, Van Maldergem L, Bieth E, Layet V, Mathieu M, Teebi A, Lespinasse J, Callier P, Mugneret F, Masurel-Paulet A, Gautier E, Huet F, Teyssier JR, Tosi M, Frébourg T, Faivre L.

Hum Mutat. 2009 Feb;30(2):E320-9. doi: 10.1002/humu.20888.

PMID:
19023858
12.

The prevalence of attention deficit hyperactivity symptoms in schoolchildren in a highly consanguineous community.

Bener A, Al Qahtani R, Teebi AS, Bessisso M.

Med Princ Pract. 2008;17(6):440-6. doi: 10.1159/000151564. Epub 2008 Oct 3.

13.

A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.

Zaidi SH, Meyer S, Peltekova VD, Lindinger A, Teebi AS, Faiyaz-Ul-Haque M.

Eur J Pediatr. 2009 Jul;168(7):867-70. doi: 10.1007/s00431-008-0839-2. Epub 2008 Sep 26.

PMID:
18818946
14.

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Sanna N, Alswaid A, Momenah T, Kaya N, Al-Dayel F, Bouhoaigah I, Saliem M, Tsui LC, Teebi AS.

Atherosclerosis. 2009 Apr;203(2):466-71. doi: 10.1016/j.atherosclerosis.2008.07.026. Epub 2008 Aug 5.

PMID:
18774132
15.

Additional EFNB1 mutations in craniofrontonasal syndrome.

Wallis D, Lacbawan F, Jain M, Der Kaloustian VM, Steiner CE, Moeschler JB, Losken HW, Kaitila II, Cantrell S, Proud VK, Carey JC, Day DW, Lev D, Teebi AS, Robinson LK, Hoyme HE, Al-Torki N, Siegel-Bartelt J, Mulliken JB, Robin NH, Saavedra D, Zackai EH, Muenke M.

Am J Med Genet A. 2008 Aug 1;146A(15):2008-12. doi: 10.1002/ajmg.a.32388. No abstract available.

16.

Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families.

Faiyaz-Ul-Haque M, Zaidi SH, Wahab AA, Eltohami A, Al-Mureikhi MS, Al-Thani G, Peltekova VD, Tsui LC, Teebi AS.

Clin Genet. 2008 Aug;74(2):189-93. doi: 10.1111/j.1399-0004.2008.01049.x. Epub 2008 Jun 28. No abstract available.

PMID:
18565096
17.

Structural variation of chromosomes in autism spectrum disorder.

Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW.

Am J Hum Genet. 2008 Feb;82(2):477-88. doi: 10.1016/j.ajhg.2007.12.009. Epub 2008 Jan 17.

18.

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.

Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R.

Am J Med Genet A. 2007 Dec 15;143A(24):2924-30.

PMID:
18000985
19.

Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Mureikhi MS, Peltekova I, Tsui LC, Teebi AS.

Clin Genet. 2007 Aug;72(2):164-6. No abstract available.

PMID:
17661825
20.

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR.

Nat Genet. 2007 Aug;39(8):957-9. Epub 2007 Jul 15.

21.
22.
23.

Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome?

Hamamy HA, Teebi AS, Oudjhane K, Shegem NN, Ajlouni KM.

Am J Med Genet A. 2007 Feb 1;143A(3):229-34.

PMID:
17230486
24.

The incidence patterns of Down syndrome in Qatar.

Wahab AA, Bener A, Teebi AS.

Clin Genet. 2006 Apr;69(4):360-2. No abstract available.

PMID:
16630172
25.
26.

Consanguinity: implications for practice, research, and policy.

Teebi AS, El-Shanti HI.

Lancet. 2006 Mar 25;367(9515):970-1. No abstract available.

PMID:
16564347
27.

Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs.

Al-Mayouf SM, AlMehaidib A, Bahabri S, Shabib S, Sakati N, Teebi AS.

Clin Exp Rheumatol. 2005 Sep-Oct;23(5):717-20.

PMID:
16173255
28.

Meier-Gorlin (ear-patella-short stature) syndrome: growth hormone deficiency and previously unrecognized findings.

Faqeih E, Sakati N, Teebi AS.

Am J Med Genet A. 2005 Sep 1;137A(3):339-41. No abstract available.

PMID:
16088921
29.

Structural central nervous system (CNS) anomalies in Kabuki syndrome.

Ben-Omran T, Teebi AS.

Am J Med Genet A. 2005 Aug 15;137(1):100-3. No abstract available.

PMID:
16007616
30.

Genetic diversity among the Arabs.

Teebi AS, Teebi SA.

Community Genet. 2005;8(1):21-6. Review.

PMID:
15767750
31.

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.

Zaidi SH, Peltekova V, Meyer S, Lindinger A, Paterson AD, Tsui LC, Faiyaz-Ul-Haque M, Teebi AS.

Clin Genet. 2005 Feb;67(2):183-8.

PMID:
15679832
32.

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.

Walker LC, Teebi AS, Marini JC, De Paepe A, Malfait F, Atsawasuwan P, Yamauchi M, Yeowell HN.

Mol Genet Metab. 2004 Dec;83(4):312-21.

PMID:
15589118
33.

Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: new syndromic spectrum?

Lemire BD, Buncic JR, Kennedy SJ, Dyack SJ, Teebi AS.

Am J Med Genet A. 2004 Dec 15;131(3):318-9. No abstract available.

PMID:
15472996
34.

Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome.

Kennedy SJ, Teebi AS.

Am J Med Genet A. 2004 Aug 15;129A(1):73-6.

PMID:
15266620
35.

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS.

Am J Med Genet A. 2004 Jul 1;128A(1):39-45.

PMID:
15211654
36.

Cancer in Sotos syndrome: report of a patient with acute myelocytic leukemia and review of the literature.

Al-Mulla N, Belgaumi AF, Teebi A.

J Pediatr Hematol Oncol. 2004 Mar;26(3):204-8. Review.

PMID:
15125616
37.

Naming of a syndrome: the story of "Adam Wright" syndrome.

Teebi AS.

Am J Med Genet A. 2004 Mar 15;125A(3):329-30. No abstract available.

PMID:
14994249
38.

The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23.

Lo B, Faiyaz-Ul-Haque M, Banwell B, Blaser S, Paterson AD, Tsui LC, Teebi AS.

Clin Genet. 2004 Feb;65(2):137-42.

PMID:
14984473
39.

Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome.

Teebi AS, Dupuis L, Wherrett D, Khoury A, Zucker KJ.

Eur J Pediatr. 2004 Mar;163(3):170-2. Epub 2003 Dec 23.

PMID:
14691719
40.

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA.

Am J Hum Genet. 2003 Oct;73(4):957-66. Epub 2003 Sep 12.

41.

Response to correspondence from Gripp et al.-"clinical and molecular diagnosis should be consistent".

Chun K, Teebi AS, Teshima I.

Am J Med Genet A. 2003 Sep 15;122A(1):91. No abstract available.

PMID:
12949981
42.

Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.

Lo B, Faiyaz-Ul-Haque M, Kennedy S, Aviv R, Tsui LC, Teebi AS.

Am J Med Genet A. 2003 Aug 15;121A(1):37-40.

PMID:
12900899
43.

Screening of patients with craniosynostosis: molecular strategy.

Chun K, Teebi AS, Azimi C, Steele L, Ray PN.

Am J Med Genet A. 2003 Aug 1;120A(4):470-3.

PMID:
12884424
44.

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.

Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Faiyaz Ul Haque M, Teebi AS.

Acta Paediatr. 2003 Apr;92(4):456-62. Erratum in: Acta Paediatr. 2010 Jul;99(7):1212. Ul Haque, N F [corrected to Faiyaz Ul Haque, Muhammad].

PMID:
12801113
45.

Human chromosome 7: DNA sequence and biology.

Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC.

Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10.

46.

Clinical and genetic aspects of trigonocephaly: a study of 25 cases.

Azimi C, Kennedy SJ, Chitayat D, Chakraborty P, Clarke JT, Forrest C, Teebi AS.

Am J Med Genet A. 2003 Mar 1;117A(2):127-35.

PMID:
12567409
47.

Teebi hypertelorism syndrome: report of a family with previously unrecognized findings.

Tsai AC, Robertson JR, Teebi AS.

Am J Med Genet. 2002 Dec 1;113(3):302-6.

PMID:
12439902
48.

Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.

Faiyaz-Ul-Haque M, Ahmad W, Wahab A, Haque S, Azim AC, Zaidi SH, Teebi AS, Ahmad M, Cohn DH, Siddique T, Tsui LC.

Am J Med Genet. 2002 Jul 22;111(1):31-7. Review.

PMID:
12124730
49.

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).

Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, Haque S, Teebi AS, Ahmad M, Cohn DH, Tsui LC.

Clin Genet. 2002 Jun;61(6):454-8.

PMID:
12121354
50.

Genetic analysis of patients with the Saethre-Chotzen phenotype.

Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I.

Am J Med Genet. 2002 Jun 15;110(2):136-43.

PMID:
12116251

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