Results 181 to 190 of about 1,021,105 (352)

Exome sequencing identifies somatic point mutations associated with acquired endocrine resistance in breast cancer cell lines [PDF]

, 2012
Natasja Ehlers, Zhu Da, Daniel Eliáš, Xue Lin, Jian Li, Christina Bjerre, Nils Brünner, Lars Bolund, Jun Wang, Ramneek Gupta, Henrik J. Ditzel   +10 more
openalex   +1 more source

Supplementary files to: A unique case of Bloom syndrome with a combination of genetic hits: a lesson from trio-based exome sequencing

, 2022
Markéta Wayhelová
openalex   +1 more source

Detection and characterisation of copy number variants from exome sequencing in the DDD study [PDF]

, 2023
Petr Danecek, Eugene J. Gardner, Tomas Fitzgerald, Giuseppe Gallone, Joanna Kaplanis, Ruth Y. Eberhardt, Caroline F. Wright, Helen V. Firth, Matthew E. Hurles   +8 more
openalex   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing [PDF]

, 2015
Lorelei D. Shoemaker, Michael J. Clark, Anil Patwardhan, Gemma Chandratillake, Sarah Garcia, Rong Chen, Alexander A. Morgan, Nan Leng, Scott Kirk, Richard Chen, Douglas J. Cook, M Snyder, Gary K. Steinberg   +12 more
openalex   +1 more source

Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report [PDF]

, 2023
Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang, Shanling Liu   +7 more
openalex   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Drosophila Proteome; Exome Re-sequencing; Sequencing in Nanopores

BioTechniques, 2009
K. Nybo, B. Perry
doaj   +1 more source