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ArticlesPeer ReviewedFull Text
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects
Author / Creator:Wouters, Vinciane ; Limaye, Nisha ; Uebelhoer, Melanie ; Irrthum, Alexandre ; Boon, Laurence M ; Mulliken, John B ; Enjolras, Odile ; Baselga, Eulalia ; Berg, Jonathan ; Dompmartin, Anne ; Ivarsson, Sten A ; Kangesu, Loshan ; Lacassie, Yves ; Murphy, Jill ; Teebi, Ahmad S ; Penington, Anthony ; Rieu, Paul ; Vikkula, Miikka
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2010-04, Vol.18 (4), p.414-420
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ArticlesPeer ReviewedFull Text
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
Author / Creator:Kantarci, Sibel ; Al-Gazali, Lihadh ; Hill, R Sean ; Donnai, Dian ; Black, Graeme C M ; Bieth, Eric ; Chassaing, Nicolas ; Lacombe, Didier ; Devriendt, Koen ; Teebi, Ahmad ; Loscertales, Maria ; Robson, Caroline ; Liu, Tianming ; MacLaughlin, David T ; Noonan, Kristin M ; Russell, Meaghan K ; Walsh, Christopher A ; Donahoe, Patricia K ; Pober, Barbara R
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2007-08, Vol.39 (8), p.957-959
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ArticlesPeer ReviewedFull Text
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 substituti...
Author / Creator:Seidler, Daniela G. ; Faiyaz-Ul-Haque, Muhammad ; Hansen, Uwe ; Yip, George W. ; Zaidi, Syed H. E. ; Teebi, Ahmad S. ; Kiesel, Ludwig ; Götte, Martin
Publisher:Germany: Springer Nature B.V
Journal title:Journal of molecular medicine (Berlin, Germany), 2006-07, Vol.84 (7), p.583-594
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ArticlesPeer ReviewedFull Text
Lissencephaly, IgG subclass immunodeficiency, and a connective tissue disorder: a new syndrome?
Author / Creator:Ehlayel, Mohammad S. ; Ben-Omran, Tawfeg ; Bhat, Venkatraman ; Teebi, Ahmad S.
Publisher:Heidelberg: D. Steinkopff-Verlag
Journal title:Journal of neurology, 2009-12, Vol.256 (12), p.2087-2090
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ArticlesPeer ReviewedFull Text
A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin
Author / Creator:Zaidi, Syed H. E. ; Meyer, Sascha ; Peltekova, Vanya D. ; Lindinger, Angelika ; Teebi, Ahmad S. ; Faiyaz-Ul-Haque, Muhammad
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2009-07, Vol.168 (7), p.867-870
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ArticlesPeer ReviewedFull Text
Genetic Diversity among the Arabs
Author / Creator:Teebi, Ahmad S. ; Teebi, Saeed A.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Community genetics, 2005-01, Vol.8 (1), p.21-26
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ArticlesPeer ReviewedFull Text
Consanguinity: implications for practice, research, and policy
Author / Creator:Teebi, Ahmad S ; El-Shanti, Hatem I
Publisher:England: Elsevier Ltd
Journal title:The Lancet (British edition), 2006-03, Vol.367 (9515), p.970-971
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ArticlesPeer ReviewedFull Text
Arab genetic disease database (AGDDB): A population-specific clinical and mutation database
Author / Creator:Teebi, Ahmad S. ; Teebi, Saeed A. ; Porter, Christopher J. ; Cuticchia, A. Jamie
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2002-06, Vol.19 (6), p.615-621
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ArticlesPeer ReviewedFull Text
Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome
Author / Creator:Teebi, Ahmad S. ; Dupuis, Lucie ; Wherrett, Diane ; Khoury, Anthony ; Zucker, Kenneth J.
Publisher:Germany: Springer Nature B.V
Journal title:European journal of pediatrics, 2004-03, Vol.163 (3), p.170-172
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ArticlesPeer ReviewedFull Text
The pattern of neural tube defects in a highly endogamous society: A 25-year incidence trends
Author / Creator:Bener, Abdulbari ; Kurdi, Bader ; Hoffmann, Georg F. ; Caksen, Huseyin ; Teebi, Ahmad
Publisher:New York: Georg Thieme Verlag KG
Journal title:Journal of pediatric neurology, 2012-09, Vol.10 (3), p.193-198
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ArticlesPeer ReviewedFull Text
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Author / Creator:Yu, Timothy W. ; Chahrour, Maria H. ; Coulter, Michael E. ; Jiralerspong, Sarn ; Okamura-Ikeda, Kazuko ; Ataman, Bulent ; Schmitz-Abe, Klaus ; Harmin, David A. ; Adli, Mazhar ; Malik, Athar N. ; D’Gama, Alissa M. ; Lim, Elaine T. ; Sanders, Stephan J. ; Mochida, Ganesh H. ; Partlow, Jennifer N. ; Sunu, Christine M. ; Felie, Jillian M. ; Rodriguez, Jacqueline ; Nasir, Ramzi H. ; Ware, Janice ; Joseph, Robert M. ; Hill, R. Sean ; Kwan, Benjamin Y. ; Al-Saffar, Muna ; Mukaddes, Nahit M. ; Hashmi, Asif ; Balkhy, Soher ; Gascon, Generoso G. ; Hisama, Fuki M. ; LeClair, Elaine ; Poduri, Annapurna ; Oner, Ozgur ; Al-Saad, Samira ; Al-Awadi, Sadika A. ; Bastaki, Laila ; Ben-Omran, Tawfeg ; Teebi, Ahmad S. ; Al-Gazali, Lihadh ; Eapen, Valsamma ; Stevens, Christine R. ; Rappaport, Leonard ; Gabriel, Stacey B. ; Markianos, Kyriacos ; State, Matthew W. ; Greenberg, Michael E. ; Taniguchi, Hisaaki ; Braverman, Nancy E. ; Morrow, Eric M. ; Walsh, Christopher A.
Publisher:United States: Elsevier Inc
Journal title:Neuron (Cambridge, Mass.), 2013-01, Vol.77 (2), p.259-273
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ArticlesPeer ReviewedFull Text
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylati ng effects
Author / Creator:WOUTERS, Vinciane ; LIMAYE, Nisha ; IVARSSON, Sten A ; KANGESU, Loshan ; LACASSIE, Yves ; MURPHY, Jill ; TEEBI, Ahmad S ; PENINGTON, Anthony ; RIEU, Paul ; VIKKULA, Miikka ; UEBELHOER, Melanie ; IRRTHUM, Alexandre ; BOON, Laurence M ; MULLIKEN, John B ; ENJOLRAS, Odile ; BASELGA, Eulalia ; BERG, Jonathan ; DOMPMARTIN, Anne
Publisher:Basingstoke: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2010, Vol.18 (4), p.414-420
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ArticlesPeer ReviewedFull Text
Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of EI-Shanti syndrome
Author / Creator:TEEBI, Ahmad S ; DUPUIS, Lucie ; WHERRETT, Diane ; KHOURY, Anthony ; ZUCKER, Kenneth J
Publisher:Berlin: Springer
Journal title:European journal of pediatrics, 2004, Vol.163 (3), p.170-172
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ArticlesPeer ReviewedFull Text
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome
Author / Creator:TEEBI, AHMAD S
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2000-02, Vol.37 (2), p.145-145
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ArticlesPeer ReviewedFull Text
Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype
Author / Creator:Kennedy, Shelley J ; Lee, Kyong-Jin ; McCrindle, Brian W ; Teebi, Ahmad S
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 1999-11, Vol.36 (11), p.854-855
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ArticlesPeer ReviewedFull Text
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update [Bone dysplasia series]
Author / Creator:Azouz, E Michel ; Teebi, Ahmad S ; Moy-Fong, Chen ; Lemyre, Emmanuelle ; Glanc, Phyllis
Publisher:Montreal: SAGE PUBLICATIONS, INC
Journal title:Canadian Association of Radiologists journal, 1999-06, Vol.50 (3), p.185
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ArticlesPeer ReviewedFull Text
Bone dysplasias: an introduction
Author / Creator:Azouz, E M ; Teebi, A S ; Eydoux, P ; Chen, M F ; Fassier, F
Publisher:United States: SAGE PUBLICATIONS, INC
Journal title:Canadian Association of Radiologists journal, 1998-04, Vol.49 (2), p.105-109
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ReportsFull Text
Lissencephaly, IgG subclass immunodeficiency, and a connective tissue disorder: a new syndrome?
Author / Creator:Ehlayel, Mohammad S ; Ben-Omran, Tawfeg ; Bhat, Venkatraman ; Teebi, Ahmad S
Journal title:Journal of neurology, 2009, Vol.256 (12), p.2087-2090
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Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

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

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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 substituti...

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

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

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Genetic Diversity among the Arabs

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Consanguinity: implications for practice, research, and policy

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Arab genetic disease database (AGDDB): A population-specific clinical and mutation database

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

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The pattern of neural tube defects in a highly endogamous society: A 25-year incidence trends

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Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

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Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylati ng effects

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

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Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome

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Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype

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Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update [Bone dysplasia series]

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Bone dysplasias: an introduction

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

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