متابعة
William B. Dobyns
William B. Dobyns
أسماء أخرىWilliam Dobyns, W. B. Dobyns, W. Dobyns
Professor of Pediatrics
بريد إلكتروني تم التحقق منه على umn.edu
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
A developmental and genetic classification for malformations of cortical development: update 2012
AJ Barkovich, R Guerrini, RI Kuzniecky, GD Jackson, WB Dobyns
Brain 135 (5), 1348-1369, 2012
19862012
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, DW Stockton, C Amos, ...
Nature genetics 15 (1), 62-69, 1997
19281997
Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats
O Reiner, R Carrozzo, Y Shen, M Wehnert, F Faustinella, WB Dobyns, ...
Nature 364 (6439), 717-721, 1993
11931993
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
JG Gleeson, KM Allen, JW Fox, ED Lamperti, S Berkovic, I Scheffer, ...
Cell 92 (1), 63-72, 1998
11651998
Characterizing the pattern of anomalies in congenital Zika syndrome for pediatric clinicians
CA Moore, JE Staples, WB Dobyns, A Pessoa, CV Ventura, ...
JAMA pediatrics 171 (3), 288-295, 2017
10502017
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia
JW Fox, ED Lamperti, YZ Ekşioğlu, SE Hong, Y Feng, DA Graham, ...
Neuron 21 (6), 1315-1325, 1998
9711998
Recurrent 16p11. 2 microdeletions in autism
RA Kumar, S KaraMohamed, J Sudi, DF Conrad, C Brune, JA Badner, ...
Human molecular genetics 17 (4), 628-638, 2008
8462008
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
K Kitamura, M Yanazawa, N Sugiyama, H Miura, A Iizuka-Kogo, ...
Nature genetics 32 (3), 359-369, 2002
8052002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
DBV de Bernabé, S Currier, A Steinbrecher, J Celli, E Van Beusekom, ...
The American Journal of Human Genetics 71 (5), 1033-1043, 2002
8042002
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
P Sanyanusin, LA Schimmenti, LA McNoe, TA Ward, MEM Pierpont, ...
Nature genetics 9 (4), 358-364, 1995
7701995
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
JB Rivière, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ...
Nature genetics 44 (8), 934-940, 2012
7502012
Classification system for malformations of cortical development: update 2001
AJ Barkovich, RI Kuzniecky, GD Jackson, R Guerrini, WB Dobyns
Neurology 57 (12), 2168-2178, 2001
7052001
Mutations in the Na+/K+-ATPase α3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
P de Carvalho Aguiar, KJ Sweadner, JT Penniston, J Zaremba, L Liu, ...
Neuron 43 (2), 169-175, 2004
5952004
G protein-coupled receptor-dependent development of human frontal cortex
X Piao, RS Hill, A Bodell, BS Chang, L Basel-Vanagaite, R Straussberg, ...
Science 303 (5666), 2033-2036, 2004
5892004
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA
VL Luks, N Kamitaki, MP Vivero, W Uller, R Rab, JVMG Bovée, KL Rialon, ...
The Journal of pediatrics 166 (4), 1048-1054. e5, 2015
5822015
A classification scheme for malformations of cortical development
AJ Barkovich, RI Kuzniecky, WB Dobyns, GD Jackson, LE Becker, ...
Neuropediatrics 27 (02), 59-63, 1996
5571996
Malformations of cortical development: clinical features and genetic causes
R Guerrini, WB Dobyns
The Lancet Neurology 13 (7), 710-726, 2014
5192014
Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
WB Dobyns, O Reiner, R Carrozzo, DH Ledbetter
Jama 270 (23), 2838-2842, 1993
4961993
Diagnostic criteria for Walker‐Warburg syndrome
WB Dobyns, RA Pagon, D Armstrong, CJR Curry, F Greenberg, A Grix, ...
American journal of medical genetics 32 (2), 195-210, 1989
4861989
Infantile hydrocephalus: a review of epidemiology, classification and causes
HM Tully, WB Dobyns
European journal of medical genetics 57 (8), 359-368, 2014
4732014
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مقالات 1–20