Results 231 to 240 of about 1,041,152 (399)

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration [PDF]

, 2011
Tyler Mark Pierson, Dimitre R. Simeonov, Murat Sincan, David A. Adams, Thomas C. Markello, Gretchen Golas, Karin Fuentes‐Fajardo, Nancy F. Hansen, Praveen F. Cherukuri, Pedro Cruz, James C. Mullikin, Craig Blackstone, Cynthia J. Tifft, Cornelius F. Boerkoel, William A. Gahl, NISC Comparative Sequencing Program   +15 more
openalex   +1 more source

Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley   +1 more source

Proteogenomic characterization of cholangiocarcinoma

Hepatology, EarlyView., 2022
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng, Peng Ran, Lingli Chen, Yunzhi Wang, Zixiang Yu, Ke Cai, Jinwen Feng, Zhaoyu Qin, Yanan Yin, Subei Tan, Yang Liu, Chen Xu, Guoming Shi, Yuan Ji, Jian‐Yuan Zhao, Jian Zhou, Jia Fan, Yingyong Hou, Chen Ding   +18 more
wiley   +1 more source

Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways

, 2011
Jian Wu, Yuchen Jiao, Marco Dal Molin, Anirban Maitra, Roeland F. de Wilde, Laura D. Wood, James R. Eshleman, Michael Goggins, Christopher L. Wolfgang, Marcia I. Canto, Richard D. Schulick, Barish H. Edil, Michael A. Choti, Volkan Adsay, David S. Klimstra, G. Johan A. Offerhaus, Alison P. Klein, Levy Kopelovich, Hannah Carter, Rachel Karchin, Peter J. Allen, C. Max Schmidt, Yoshiki Naito, Luis A. Díaz, Kenneth W. Kinzler, Nickolas Papadopoulos, Ralph H. Hruban, Bert Vogelstein   +27 more
openalex   +1 more source

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype [PDF]

, 2011
Ahmed Alfares, Laura Dempsey Nunez, Khalid Al‐Thihli, John J. Mitchell, S. Melançon, Natascia Anastasio, Kevin Ha, Jacek Majewski, David S. Rosenblatt, Nancy Braverman   +9 more
openalex   +1 more source

Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult‐Onset Leukoencephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also termed hereditary diffuse leukoencephalopathy with spheroids‐1 (HDLS1), results from mutations in the CSF1R gene and leads to progressive leukoencephalopathy.
Piervito Lopriore, Gianmichele Migaleddu, Pei‐Chien Tsai, Antonella Fogli, Maria Adelaide Caligo, Gabriele Siciliano, Mirco Cosottini, Yi‐Chung Lee, Yi‐Chu Liao, Michelangelo Mancuso, Roberto Ceravolo, Daniela Frosini   +11 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

, 2011
Pia Østergaard, Michael A. Simpson, Glen Brice, Sahar Mansour, Fiona Connell, Alexandros Onoufriadis, A. H. Child, Jun‐Eul Hwang, Kamini Kalidas, Peter Mortimer, Richard C. Trembath, Steve Jeffery   +11 more
openalex   +2 more sources

The role of exome sequencing in newborn screening for inborn errors of metabolism

Nature Network Boston, 2020
Aashish N. Adhikari, R. Gallagher, Yaqiong Wang, R. Currier, George S. Amatuni, Laia Bassaganyas, Flavia Chen, Kunal Kundu, M. Kvale, S. Mooney, R. Nussbaum, S. Randi, J. Sanford, Joseph T C Shieh, Rajgopal Srinivasan, Uma Sunderam, Hao Tang, Dedeepya Vaka, Yang Zou, B. Koenig, P. Kwok, N. Risch, J. Puck, S. Brenner   +23 more
semanticscholar   +1 more source

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source