Results 171 to 180 of about 88,636 (324)

Zika virus intrauterine infection causes fetal brain abnormality and microcephaly: tip of the iceberg?

Ultrasound in Obstetrics and Gynecology, 2016
A. Melo, G. Malinger, R. Ximenes, P. O. Szejnfeld, S. Sampaio, A. M. B. Filippis   +5 more
semanticscholar   +1 more source

Genetic and Infectious Causes of Microcephaly: NDE1 Mutations Compared to the Zika Virus

, 2017
David J. Doobin
openalex   +1 more source

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, EarlyView.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family [PDF]

, 2014
Muzammil Ahmad Khan, Verena Rupp, Meritxell Orpinell, Muhammad Sajid Hussain, Janine Altmüller, Michel O. Steinmetz, Christian Enzinger, Hölger Thiele, Wolfgang Höhne, Gudrun Nürnberg, Shahid Mahmood Baig, Muhammad Ansar, Peter Nürnberg, John B. Vincent, Michael R. Speicher, Pierre Gönczy, Christian Windpassinger   +16 more
openalex   +1 more source

Microcephaly with a simplified gyral pattern

, 2023
Dalia Ibrahim
openalex   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, EarlyView.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

, 2020
Dana Marafi, Tadahiro Mitani, Sedat Işıkay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam, Rami Abou Jamra, Ayman W. El‐Hattab, Jaishen Rajah, Jawid M. Fatih, Haowei Du, Ender Karaca, Yavuz Bayram, Jaya Punetha, Jill A. Rosenfeld, Shalini N. Jhangiani, Eric Boerwinkle, Zeynep Coban‐Akdemir, Serkan Erdin, Jill V. Hunter, Richard A. Gibbs, Davut Pehli̇van, Jennifer E. Posey, James R. Lupski   +23 more
openalex   +1 more source

Case of Microcephaly after Congenital Infection with Asian Lineage Zika Virus, Thailand [PDF]

, 2018
Thidathip Wongsurawat, Niracha Athipanyasilp, Piroon Jenjaroenpun, Se‐Ran Jun, Bualan Kaewnapan, Trudy M. Wassenaar, Nattawat Leelahakorn, Nasikarn Angkasekwinai, Wannee Kantakamalakul, David W. Ussery, Ruengpung Sutthent, Intawat Nookaew, Navin Horthongkham   +12 more
openalex   +1 more source

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, EarlyView.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source