Results 41 to 50 of about 96,085 (345)

Mendelian Inheritance in Man [PDF]

Reproductive Toxicology, 1993
P. S Harper
openalex   +3 more sources

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

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

Development of Higher-Level Cognitive Skills In a Learner-Centered Lab on Extensions of Mendelian Inheritance Using Drosophila

Journal of Microbiology & Biology Education, 2008
Students can have difficulty comprehending complex concepts in science. They can memorize the definition but do not understand the underlying biological principles.
Pamela A. Marshall
doaj   +1 more source

An heuristic filtering tool to identify phenotype-associated genetic variants applied to human intellectual disability and canine coat colors [PDF]

, 2015
Background: Identification of one or several disease causing variant(s) from the large collection of variants present in an individual is often achieved by the sequential use of heuristic filters.
Bosmans, Tim, Broeckx, Bart, Coopman, Frank, Deforce, Dieter, Dingemanse, Walter, Gielen, Ingrid, Saunders, Jimmy, Van Nieuwerburgh, Filip, Verhoeven, Geert   +8 more
core   +5 more sources

De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

Human Mutation, Volume 43, Issue 12, Page 1844-1851, December 2022., 2022
Abstract TATA‐binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex have been implicated previously as monogenic disease genes in human developmental disorders.
Beau D. E. Janssen, Marie‐Jose H. van den Boogaard, Klaske Lichtenbelt, Eleanor G. Seaby, Karen Stals, Sian Ellard, Ruth Newbury‐Ecob, Abhijit Dixit, Laura Roht, Sander Pajusalu, Katrin Õunap, Helen V. Firth, Michael Buckley, Meredith Wilson, Tony Roscioli, Timothy Tidwell, Rong Mao, Sarah Ennis, Sjoerd J. Holwerda, Koen van Gassen, Richard H. van Jaarsveld   +20 more
wiley   +1 more source

Induced mutations for studying Mendelian inheritance

Journal für Kulturpflanzen, 2022
All genetic variation results from mutations. Orders of magnitude can increase mutation rates by applying irradiation or chemical treatment. Genome editing offers new perspectives for mutation induction because mutation sites can be precisely targeted ...
Christian Jung
doaj   +1 more source

Additional rare variant analysis in Parkinson's Disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance [PDF]

, 2016
Oligogenic inheritance implies a role for several genetic factors in disease etiology. We studied oligogenic inheritance in Parkinson’s (PD) by assessing the potential burden of additional rare variants in established Mendelian genes and/or GBA, in ...
Adam P. Levine, Alan M. Pittman, Alastair J. Noyce, Alexis Brice, Andrew B. Singleton, Aude Nicolas, Benjamini, Cady, Elena R. Schiff, Huw R. Morris, Iris E. Jansen, J. Raphael Gibbs, James E. Tomkins, John Hardy, Jose Bras, Kin Y. Mok, Manu Sharma, Mike A. Nalls, Nalls, Nicholas W. Wood, Nigel M. Williams, Patrick A. Lewis, Peter Heutink, Steven J. Lubbe, Suzanne Lesage, T. Ryan Price, Thomas Gasser, Valentina Escott-Price   +27 more
core   +3 more sources

Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest

Human Mutation, Volume 43, Issue 12, Page 1909-1920, December 2022., 2022
Abstract The subcortical maternal complex (SCMC), composed of several maternal‐effect genes, is vital for the development of oocytes and early embryos. Variants of SCMC‐encoding genes (NLRP2, NLRP5, TLE6, PADI6, and KHDC3L, but not OOEP and ZBED3) are associated with human oocyte maturation dysfunction, fertilization failure, and early embryonic arrest.
Xiaomei Tong, Jiamin Jin, Zhanhong Hu, Yingyi Zhang, Heng‐Yu Fan, Yin‐Li Zhang, Songying Zhang   +6 more
wiley   +1 more source

Inherited Epilepsies

Bezmiâlem Science, 2020
Mutations in genes encoding the formation of ion channels may cause epileptic syndromes. These epileptic syndromes are generally divided into generalized and partial epilepsies.
Halil Aziz VELİOĞLU, Muhammed Yunus BEKTAY   +1 more
doaj   +1 more source