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Malignant transformation of oral epithelial dysplasia: a real-world evaluation of histopathologic grading
Malignant transformation of oral epithelial dysplasia: a real-world evaluation of histopathologic grading
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Malignant transformation of oral epithelial dysplasia: a real-world evaluation of histopathologic grading

Dost, F., BOralH, MPhil ; Lê Cao, K., PhD, MSc ; Ford, P.J., BDSc(Hons), BDentSt, PhD, GCHEd ; Ades, C., MBBS, FRCPA ; Farah, C.S., BDSc, MDSc, PhD, FRACDS (OralMed)

Oral surgery, oral medicine, oral pathology and oral radiology, 2014-03, Vol.117 (3), p.343-352 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Racial Disparities in Blood Pressure at Time of Acute Ischemic Stroke Presentation: A Population Study
Racial Disparities in Blood Pressure at Time of Acute Ischemic Stroke Presentation: A Population Study
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Racial Disparities in Blood Pressure at Time of Acute Ischemic Stroke Presentation: A Population Study

Aziz, Yasmin N ; Sucharew, Heidi ; Stanton, Robert J ; Alwell, Kathleen ; Ferioli, Simona ; Khatri, Pooja ; Adeoye, Opeolu ; Flaherty, Matthew L ; Mackey, Jason ; De Los Rios La Rosa, Felipe ; Martini, Sharyl R ; Mistry, Eva A ; Coleman, Elisheva ; Jasne, Adam S ; Slavin, Sabreena J ; Walsh, Kyle ; Star, Michael ; Ridha, Mohamed ; Ades, Laura M C ; Haverbusch, Mary ; Demel, Stacie L ; Woo, Daniel ; Kissela, Brett M ; Kleindorfer, Dawn O

Journal of the American Heart Association, 2024-05, Vol.13 (9), p.e032645 [Periódico revisado por pares]

England: John Wiley and Sons Inc

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3
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction
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A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction

Gold, Wendy A. ; Sobreira, Nara ; Wiame, Elsa ; Marbaix, Alexandre ; Van Schaftingen, Emile ; Franzka, Patricia ; Riley, Lisa G. ; Worgan, Lisa ; Hübner, Christian A. ; Christodoulou, John ; Adès, Lesley C.

American journal of medical genetics. Part A, 2017-08, Vol.173 (8), p.2246-2250 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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4
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
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Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Renard, Marjolijn ; Francis, Catherine ; Ghosh, Rajarshi ; Scott, Alan F. ; Witmer, P. Dane ; Adès, Lesley C. ; Andelfinger, Gregor U. ; Arnaud, Pauline ; Boileau, Catherine ; Callewaert, Bert L. ; Guo, Dongchuan ; Hanna, Nadine ; Lindsay, Mark E. ; Morisaki, Hiroko ; Morisaki, Takayuki ; Pachter, Nicholas ; Robert, Leema ; Van Laer, Lut ; Dietz, Harry C. ; Loeys, Bart L. ; Milewicz, Dianna M. ; De Backer, Julie

Journal of the American College of Cardiology, 2018-08, Vol.72 (6), p.605-615 [Periódico revisado por pares]

United States: Elsevier Inc

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5
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation
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FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

Chizhikov, Victor V ; Krantz, Ian D ; Aldinger, Kimberly A ; Hudgins, Louanne ; Dobyns, William B ; Millen, Kathleen J ; Lehmann, Ordan J ; Bassuk, Alexander G ; Ades, Lesley C

Nature genetics, 2009-09, Vol.41 (9), p.1037-1042 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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6
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23
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Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

Mowat, D R ; Croaker, G D ; Cass, D T ; Kerr, B A ; Chaitow, J ; Adès, L C ; Chia, N L ; Wilson, M J

Journal of medical genetics, 1998-08, Vol.35 (8), p.617-623 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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7
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
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Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Lacombe, Didier ; David, Albert ; Jeffs, Aaron ; Bohring, Axel ; Tchan, Michel ; Wilson, Louise C ; Pearl, Esther ; Cormier-Daire, Valérie ; Hing, Anne V ; Adès, Lesley C ; Stewart, Fiona ; Porteous, Mary E ; Garcia-Miñaur, Sixto ; Robertson, Stephen P ; Jenkins, Zandra A ; Fukuzawa, Ryuji ; Hennekam, Raoul C M ; Morgan, Tim ; Bindoff, Laurence ; Donnai, Dian ; Fiskerstrand, Torunn ; Mansour, Sahar ; Berland, Siren ; Thaller, Christina ; van Kogelenberg, Margriet

Nature genetics, 2009-01, Vol.41 (1), p.95-100 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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8
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium)
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium)
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International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium)

Jondeau, Guillaume ; Ropers, Jacques ; Regalado, Ellen ; Braverman, Alan ; Evangelista, Arturo ; Teixedo, Guisela ; De Backer, Julie ; Muiño-Mosquera, Laura ; Naudion, Sophie ; Zordan, Cecile ; Morisaki, Takayuki ; Morisaki, Hiroto ; Von Kodolitsch, Yskert ; Dupuis-Girod, Sophie ; Morris, Shaine A ; Jeremy, Richmond ; Odent, Sylvie ; Adès, Leslie C ; Bakshi, Madhura ; Holman, Katherine ; LeMaire, Scott ; Milleron, Olivier ; Langeois, Maud ; Spentchian, Myrtille ; Aubart, Melodie ; Boileau, Catherine ; Pyeritz, Reed ; Milewicz, Dianna M

Circulation. Cardiovascular genetics, 2016-12, Vol.9 (6), p.548-558 [Periódico revisado por pares]

United States: American Heart Association, Inc

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9
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders
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Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

Evesson, Frances J ; Dziaduch, Gregory ; Bryen, Samantha J ; Moore, Francesca ; Pittman, Sara ; Devanapalli, Beena ; Waddell, Leigh B ; Ryan, Monique M ; Menezes, Manoj P ; Weihl, Conrad C ; Tolun, Adviye Ayper ; Zaidman, Craig ; Young, Helen ; Adès, Lesley C ; Cooper, Sandra T

Human molecular genetics, 2023-06, Vol.32 (12), p.2084-2092 [Periódico revisado por pares]

England: Oxford University Press

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10
Ectopia lentis phenotypes and the FBN1 gene
Ectopia lentis phenotypes and the FBN1 gene
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Ectopia lentis phenotypes and the FBN1 gene

Adès, Lesley C. ; Holman, Katherine J. ; Brett, Maggie S. ; Edwards, Matthew J. ; Bennetts, Bruce

American journal of medical genetics, 2004-04, Vol.126A (3), p.284-289 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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