Results 31 to 40 of about 10,250,216 (364)

Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update

Current pediatric reviews, 2019
Background Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder with lack of expression of genes inherited from the paternal chromosome 15q11-q13 region usually from paternal 15q11-q13 deletions (about 60%) or maternal ...
Sonal Gupta, Pradeep Tiwari, Nidhi Gupta, V. Nunia, A. Saxena, Anita Simlot, S. L. Kothari, Prashanth Suravajhala, K. Medicherla, Praveen Mathur   +9 more
semanticscholar   +1 more source

Increasing confidence and changing behaviors in primary care providers engaged in genetic counselling. [PDF]

, 2017
BackgroundScreening and counseling for genetic conditions is an increasingly important part of primary care practice, particularly given the paucity of genetic counselors in the United States.
A Cull, A Schwartz, AO Berg, CA Bellcross, CA Bellcross, CE Franz, CS Skinner, D Kegelaers, DK Sokol, EJ Houwink, EJ Houwink, Erik Lehman, Frank C. Day, FS Collins, Haley McDermott, HJ Baer, J Mancini, JC Carroll, KF Trivers, M Paneque, M Srinivasan, MD Schwartz, Michael J. Green, Michael S. Wilkes, MJ Green, MJ Novak, ML Rinke, NA Mikat-Stevens, PO Ozuah, R Grol, RA Bell, RM Epstein, RM Hoffman, Robert A. Bell, S Appleton, T Pal, TJ Leonarczyk, Tonya L. Fancher, V Rahimzadeh, VA Moyer, W Burke, W Burke, YR Cukier   +42 more
core   +1 more source

Lynch syndrome genetics and clinical implications.

Gastroenterology, 2023
Lynch syndrome (LS) is one of the most prevalent hereditary cancer syndromes in man and accounts for some 3% of unselected patients with colorectal or endometrial cancer and 10-15% of those with DNA mismatch repair (MMR)-deficient tumors.
P. Peltomäki, Minna Nyström, J. Mecklin, T. Seppälä   +3 more
semanticscholar   +1 more source

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Frontiers in Genetics, 2019
Prenatal ultrasound (US) abnormalities often pose a clinical dilemma and necessitate facilitated investigations in the search of diagnosis. The strategy of pursuing fetal whole-exome sequencing (WES) for pregnancies complicated by abnormal US findings is
Lior Greenbaum, Lior Greenbaum, Lior Greenbaum, Ben Pode-Shakked, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik-Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli-Avella, Peter Bauer, Miriam Regev, Miriam Regev, Annick Raas-Rothschild, Annick Raas-Rothschild, Elon Pras, Elon Pras, Michal Berkenstadt, Michal Berkenstadt   +22 more
doaj   +1 more source

Analysis of Gene-Environment Interactions Related to Developmental Disorders

Frontiers in Pharmacology, 2022
Various genetic and environmental factors are associated with developmental disorders (DDs). It has been suggested that interaction between genetic and environmental factors (G × E) is involved in the etiology of DDs.
Yuhei Nishimura, Kenji Kurosawa, Kenji Kurosawa   +2 more
doaj   +1 more source

Genetics of autistic disorders : review and clinical implications [PDF]

, 2009
Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy ...
Duketis, Eftichia, Freitag, Christine M., Klauck, Sabine M., Staal, Wouter, Waltes, Regina   +4 more
core   +4 more sources

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

Molecular Autism, 2019
BackgroundNeurogenetics investigations and diagnostic yield in patients with autism spectrum disorder (ASD) have significantly improved over the last few years.
A. Munnich, C. Demily, Lisa Frugère, Charlyne Duwime, V. Malan, G. Barcia, Céline Vidal, Émeline Throo, C. Besmond, L. Hubert, Gilles Roland-Manuel, J. Malen, M. Ferreri, S. Hanein, J. Thalabard, N. Boddaert, Moise Assouline   +16 more
semanticscholar   +1 more source

Penalized EM algorithm and copula skeptic graphical models for inferring networks for mixed variables [PDF]

, 2014
In this article, we consider the problem of reconstructing networks for continuous, binary, count and discrete ordinal variables by estimating sparse precision matrix in Gaussian copula graphical models.
Abegaz, Fentaw, Wit, Ernst
core   +5 more sources

LncRNA-Top: Controlled deep learning approaches for lncRNA gene regulatory relationship annotations across different platforms

iScience, 2023
Summary: By soaking microRNAs (miRNAs), long non-coding RNAs (lncRNAs) have the potential to regulate gene expression. Few methods have been created based on this mechanism to anticipate the lncRNA-gene relationship prediction.
Weidun Xie, Xingjian Chen, Zetian Zheng, Fuzhou Wang, Xiaowei Zhu, Qiuzhen Lin, Yanni Sun, Ka-Chun Wong   +7 more
doaj   +1 more source

A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration

Molecular Genetics & Genomic Medicine, 2021
Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is a genetic neurodegenerative condition previously thought to be inherited only in an autosomal recessive pattern through biallelic pathogenic variants in C19orf12.
Stuart Fraser, Mary Koenig, Laura Farach, Pedro Mancias, Kate Mowrey   +4 more
doaj   +1 more source