Gene A. Smith - AILBRY - Article Search

Results for 'Gene A. Smith' :

Molecular and Neural Functions of Rai1 , the Causal Gene for Smith-Magenis Syndrome

Publication Year: 2016

DOI: https://doi.org/10.1016/j.neuron.2016.09.019

Abstract:

Authors:
- Wei‐Hsiang Huang
- Casey J. Guenthner
- Jin Xu
- Tiffany Nguyen
- Lindsay A. Schwarz
- Alex W. Wilkinson
- Or Gozani
- Howard Y. Chang
- Mehrdad Shamloo
- Liqun Luo
Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes

Publication Year: 2015

DOI: https://doi.org/10.1055/s-0035-1564443

Abstract:

Authors:
- Juanita Neira‐Fresneda
- Lorraine Potocki
<i>Fas</i>Gene Mutations in the Canale–Smith Syndrome, an Inherited Lymphoproliferative Disorder Associated with Autoimmunity

Publication Year: 1996

DOI: https://doi.org/10.1056/nejm199611283352204

Abstract:

Authors:
- Jörn Drappa
- Akshay Vaishnaw
- Kathleen E. Sullivan
- Jia‐Li Chu
- Keith B. Elkon
Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome

Publication Year: 1998

DOI: https://doi.org/10.1073/pnas.95.14.8181

Abstract:

Authors:
- Barbara U. Fitzky
- Martina Witsch‐Baumgartner
- Martin Erdel
- Joon No Lee
- Young‐Ki Paik
- Hartmut Glossmann
- Gerd Utermann
- Fabian F. Moebius
Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

Publication Year: 1998

DOI: https://doi.org/10.1086/301936

Abstract:

Authors:
- Christopher A. Wassif
- Cheryl L. Maslen
- Stivelia Kachilele-Linjewile
- Don S. Lin
- Leesa M. Linck
- William E. Connor
- Robert D. Steiner
- Forbes D. Porter
Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

Publication Year: 1998

DOI: https://doi.org/10.1086/301982

Abstract:

Authors:
- Hans R. Waterham
- Frits A. Wijburg
- Raoul C. M. Hennekam
- P. Vreken
- Bwee Tien Poll‐The
- L. Dorland
- Marinus Durán
- Petr E. Jira
- Jan Smeitink
- Ron A. Wevers
- Ronald J. A. Wanders
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Publication Year: 1991

DOI: DOI not available

Abstract:

Authors:
- Frank Greenberg
- Guzzetta
- Montes de Oca-Luna R
- R. Ellen Magenis
- Smith Ac
- Richter Sf
- Ikuko Kondo
- William B. Dobyns
- Pragna I. Patel
- Lupski
Smith‐Lemli‐Opitz Syndrome and the <i>DHCR7</i> Gene

Publication Year: 2003

DOI: https://doi.org/10.1046/j.1469-1809.2003.00034.x

Abstract:

Authors:
- Petr E. Jira
- H. R. Waterham
- Ronald J. A. Wanders
- Jan Smeitink
- R. C. A. Sengers
- Ron A. Wevers
KAAS: an automatic genome annotation and pathway reconstruction server

Publication Year: 2007

DOI: https://doi.org/10.1093/nar/gkm321

Abstract:

Authors:
- Yuki Moriya
- Masumi Itoh
- Shujiro Okuda
- Akiyasu C. Yoshizawa
- Minoru Kanehisa
Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

Publication Year: 2002

DOI: https://doi.org/10.1101/gr.73702

Abstract:

Authors:
- Weimin Bi
- Jiong Yan
- Paweł Stankiewicz
- Sung Sup Park
- Katherina Walz
- Cornelius F. Boerkoel
- Lorraine Potocki
- Lisa G. Shaffer
- Koenraad Devriendt
- Małgorzata J.M. Nowaczyk
- Ken Inoue
- James R. Lupski
Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

Publication Year: 2006

DOI: https://doi.org/10.1097/01.gim.0000228215.32110.89

Abstract:

Authors:
- Santhosh Girirajan
- Christopher N. Vlangos
- Barbara Szomju
- Emily Edelman
- Christopher D. Trevors
- Lucie Dupuis
- Marjan M. Nezarati
- David J. Bunyan
- Sarah H. Elsea
The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients

Publication Year: 1995

DOI: https://doi.org/10.1093/hmg/4.4.589

Abstract:

Authors:
- Zhaoyang Zhao
- Chang-Chi Lee
- Sarn Jiralerspong
- Ramesh C. Juyal
- Fei Lü
- Antonio Baldini
- Frank Greenberg
- C. Thomas Caskey
- Pragna I. Patel
Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs

Publication Year: 2002

DOI: https://doi.org/10.1101/gr.82802

Abstract:

Authors:
- Sung Sup Park
- Paweł Stankiewicz
- Weimin Bi
- Christine J. Shaw
- Jessica A. Lehoczky
- Ken Dewar
- Bruce W. Birren
- James R. Lupski
Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

Publication Year: 2000

DOI: https://doi.org/10.1086/302760

Abstract:

Authors:
- Martina Witsch‐Baumgartner
- Barbara U. Fitzky
- M. Ogorelkova
- H.G. Kraft
- Fabian F. Moebius
- Hartmut Glossmann
- Udo Seedorf
- Gabriele Gillessen‐Kaesbach
- Georg F. Hoffmann
- Peter T. Clayton
- Richard I. Kelley
- Gerd Utermann
The behavioural phenotype of Smith–Magenis syndrome: evidence for a gene–environment interaction

Publication Year: 2008

DOI: https://doi.org/10.1111/j.1365-2788.2008.01066.x

Abstract:

Authors:
- Lawrence W. Taylor
- Chris Oliver

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Results for 'Gene A. Smith' :

Molecular and Neural Functions of Rai1 , the Causal Gene for Smith-Magenis Syndrome

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes

<i>Fas</i>Gene Mutations in the Canale–Smith Syndrome, an Inherited Lymphoproliferative Disorder Associated with Autoimmunity

Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome

Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Smith‐Lemli‐Opitz Syndrome and the <i>DHCR7</i> Gene

KAAS: an automatic genome annotation and pathway reconstruction server

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients

Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs

Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

The behavioural phenotype of Smith–Magenis syndrome: evidence for a gene–environment interaction

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