Results 21 to 30 of about 37,506 (300)

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

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

Microcephaly and Epilepsy

Pediatric Neurology Briefs, 2000
The prevalence of epilepsy and learning disability among various types of microcephaly was determined in a study of 66 cases (age range from 2 to 19 years) at the National Research Centre, Cairo, Egypt, and the Department of Human Genetics and Teratology, National Center for Epidemiology, Budapest, Hungary.
J Gordon Millichap
openalex   +4 more sources

Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients

, 2023
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 284-288, January 2023.
Lucia Pia Bruno, Gabriella Doddato, Margherita Baldassarri, Caterina Lo Rizzo, Sara Resciniti, Mirella Bruttini, Lista Mirjam, Kristina Zguro, Simone Furini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani   +11 more
wiley   +1 more source

Cornelia de Lange syndrome and cancer: An open question

, 2023
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 292-295, January 2023.
Maria M. Pallotta, Maddalena Di Nardo, Raoul C. M. Hennekam, Frank J. Kaiser, Ilaria Parenti, Juan Pié, Feliciano J. Ramos, Antonie D. Kline, Antonio Musio   +8 more
wiley   +1 more source

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

BMC Neurology, 2020
Background Primary microcephaly is defined as reduced occipital-frontal circumference noticeable before 36 weeks of gestation. Large amount of insults might lead to microcephaly including infections, hypoxia and genetic mutations.
Vincent Picher-Martel, Yvan Labrie, Serge Rivest, Baiba Lace, Nicolas Chrestian   +4 more
doaj   +1 more source

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022
Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia, Yoko Aoki, Bruce D. Gelb   +2 more
wiley   +1 more source

Small head circumference at birth: an 8-year retrospective cohort study in China

BMJ Paediatrics Open, 2019
Objective Head circumference is considered a reliable assessment of the volume of the underlying brain. We sought to identify risk factors (maternal factors or antenatal antecedents) for microcephaly and to assess the effects of microcephaly on neonatal ...
Wen Sun, Nathalie Auger, Shiliang Liu, Yanmei Pan, Lijuan Dai, Sihui Li, Sushan Xie, Shi Wu Wen, Dunjin Chen   +8 more
doaj   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

A theoretical estimate of the risk of microcephaly during pregnancy with Zika virus infection

Epidemics, 2016
Objectives: There has been a growing concern over Zika virus (ZIKV) infection, particularly since a probable link between ZIKV infection during pregnancy and microcephaly in the baby was identified.
Hiroshi Nishiura, Kenji Mizumoto, Kat S. Rock, Yohei Yasuda, Ryo Kinoshita, Yuichiro Miyamatsu   +5 more
doaj   +1 more source