Results 21 to 30 of about 13,351 (224)

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 135-143, January 2023., 2023
Abstract We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome.
Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer   +30 more
wiley   +1 more source

Mutation rates and the evolution of germline structure [PDF]

Philosophical Transactions of the Royal Society B: Biological Sciences, 2015
AbstractGenome sequencing studies ofde novomutations in humans have revealed surprising incongruities with our understanding of human germline mutation. In particular, the mutation rate observed in modern humans is substantially lower than that estimated from calibration against the fossil record, and the paternal age effect in mutations transmitted to
openaire   +4 more sources

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

Pain correlates with germline mutation in schwannomatosis

Medicine, 2018
Schwannomatosis has been linked to germline mutations in the SMARCB1 and LZTR1 genes, and is frequently associated with pain.In a cohort study, we assessed the mutation status of 37 patients with clinically diagnosed schwannomatosis and compared to clinical data, whole body MRI (WBMRI), visual analog pain scale, and Short Form 36 (SF-36) bodily pain ...
Jordan, Justin T., Smith, Miriam J., Walker, James A., Erdin, Serkan, Talkowski, Michael E., Merker, Vanessa L., Ramesh, Vijaya, Cai, Wenli, Harris, Gordon J., Bredella, Miriam A., Seijo, Marlon, Suuberg, Alessandra, Gusella, James F., Plotkin, Scott R.   +13 more
openaire   +5 more sources

Germline mutations: many roles in leukemogenesis

Current Opinion in Hematology, 2020
Purpose of review The purpose of this review is to summarize the current understanding of germline mutations as they contribute to leukemia development and progression. We also discuss how these new insights may help improve clinical management of germline mutations associated with leukemia ...
Cheng Kui Qu, Christopher C. Porter, Kevin Z Chen, Rafi Kazi   +3 more
openaire   +3 more sources

Properties and rates of germline mutations in humans [PDF]

Trends in Genetics, 2013
All genetic variation arises via new mutations; therefore, determining the rate and biases for different classes of mutation is essential for understanding the genetics of human disease and evolution. Decades of mutation rate analyses have focused on a relatively small number of loci because of technical limitations.
Evan E. Eichler, Evan E. Eichler, Catarina D. Campbell   +2 more
openaire   +3 more sources

Do Species Evolve Through Mutations Guided by Non-Coding RNAs? [PDF]

arXiv, 2023
The current theory of evolution is almost the one Darwin and Wallace proposed two centuries ago and the following discoveries e.g., Mendelian genetics and neutral mutation theory have not made significant modifications. The current evolution theory relies mostly on heritable variations within species population, natural selection and genetic drift. The
arxiv  

BRCA Gene Mutations in dbSNP: A Visual Exploration of Genetic Variants [PDF]

arXiv, 2023
BRCA genes, comprising BRCA1 and BRCA2 play indispensable roles in preserving genomic stability and facilitating DNA repair mechanisms. The presence of germline mutations in these genes has been associated with increased susceptibility to various cancers, notably breast and ovarian cancers.
arxiv  

An Evolutionary Reduction Principle for Mutation Rates at Multiple Loci [PDF]

Bulletin of Mathematical Biology 73: 1227-1270 (2011), 2009
A model of mutation rate evolution for multiple loci under arbitrary selection is analyzed. Results are obtained using techniques from Karlin (1982) that overcome the weak selection constraints needed for tractability in prior studies of multilocus event models.
arxiv   +1 more source

Lifting the veil on germline DDX41 mutations [PDF]

Blood, 2019
In this issue of Blood, Sebert et al made the intriguing observation that cases with germline DEAD-box helicase 41 (DDX41) mutations represent a unique entity among adult myeloid neoplasms (MNs), often with distinct clinical and molecular features.
openaire   +3 more sources