Shahid Baig
Shahid Baig
Professor, NIBGE
Bekræftet mail på nibge.org
Titel
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År
Loss of Ca v 1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness
SM Baig, A Koschak, A Lieb, M Gebhart, C Dafinger, G Nürnberg, A Ali, ...
Nature neuroscience 14 (1), 77-84, 2011
2572011
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies
T Eisenberger, C Neuhaus, AO Khan, C Decker, MN Preising, ...
PloS one 8 (11), e78496, 2013
1732013
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function
MS Hussain, SM Baig, S Neumann, G Nürnberg, M Farooq, I Ahmad, ...
The American Journal of Human Genetics 90 (5), 871-878, 2012
1732012
Imbalance between neutrophil elastase and its inhibitor α1-antitrypsin in obesity alters insulin sensitivity, inflammation, and energy expenditure
V Mansuy-Aubert, QL Zhou, X Xie, Z Gong, JY Huang, AR Khan, G Aubert, ...
Cell metabolism 17 (4), 534-548, 2013
1522013
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
CA Martin, I Ahmad, A Klingseisen, MS Hussain, LS Bicknell, A Leitch, ...
Nature genetics 46 (12), 1283, 2014
1382014
Molecular and population genetic analyses of β‐Thalassemia in Turkey
GO Tadmouri, Ş Tüzmen, H Özçelik, A Özer, SM Baig, EB Senga, ...
American journal of hematology 57 (3), 215-220, 1998
1151998
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
MS Hussain, SM Baig, S Neumann, VS Peche, S Szczepanski, ...
Human molecular genetics 22 (25), 5199-5214, 2013
952013
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability
L Hansen, H Tawamie, Y Murakami, Y Mang, S ur Rehman, R Buchert, ...
The American Journal of Human Genetics 92 (4), 575-583, 2013
912013
WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome
S Nawaz, J Klar, M Wajid, M Aslam, M Tariq, J Schuster, SM Baig, N Dahl
European journal of human genetics 17 (12), 1600-1605, 2009
752009
Gene panel testing in epileptic encephalopathies and familial epilepsies
RS Møller, LHG Larsen, KM Johannesen, I Talvik, T Talvik, U Vaher, ...
Molecular syndromology 7 (4), 210-219, 2016
672016
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia
AS Fröjmark, J Schuster, M Sobol, M Entesarian, MBC Kilander, ...
The American Journal of Human Genetics 88 (6), 852-860, 2011
622011
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
MA Khan, VM Rupp, M Orpinell, MS Hussain, J Altmüller, MO Steinmetz, ...
Human molecular genetics 23 (22), 5940-5949, 2014
572014
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome
S Lohan, M Spielmann, SC Doelken, R Flöttmann, F Muhammad, ...
Clinical Genetics 86 (4), 318-325, 2014
542014
Prenatal diagnosis of β‐thalassemia in Southern Punjab, Pakistan
SM Baig, A Azhar, H Hassan, JM Baig, M Aslam, MA Ud Din, JA Qureshi, ...
Prenatal diagnosis 26 (10), 903-905, 2006
542006
Genetic heterogeneity in Pakistani microcephaly families
M Sajid Hussain, S Marriam Bakhtiar, M Farooq, I Anjum, E Janzen, ...
Clinical genetics 83 (5), 446-451, 2013
502013
Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis …
M Farooq, JT Troelsen, M Boyd, H Eiberg, L Hansen, MS Hussain, ...
European Journal of Human Genetics 18 (6), 733-736, 2010
492010
Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis
SM Baig, A Azhar, H Hassan, JM Baig, A Kiyani, U Hameed, F Rabbi, ...
haematologica 91 (3), ELT02-ELT02, 2006
452006
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis
A Moawia, R Shaheen, S Rasool, SS Waseem, N Ewida, B Budde, ...
Annals of neurology 82 (4), 562-577, 2017
442017
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice
J Klar, C Hisatsune, SM Baig, M Tariq, ACV Johansson, M Rasool, ...
The Journal of clinical investigation 124 (11), 4773-4780, 2014
442014
Targeted and Genomewide NGS Data Disqualify Mutations in MYO1A, the “DFNA48 Gene”, as a Cause of Deafness
T Eisenberger, N Di Donato, SM Baig, C Neuhaus, A Beyer, E Decker, ...
Human mutation 35 (5), 565-570, 2014
402014
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Artikler 1–20