Results 181 to 190 of about 90,161 (348)

Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability [PDF]

, 2021
Ethiraj Ravindran, Cynthia Gutierrez de Velazco, Ghazanfar Ali, Nadine Kraemer, Sami Zaqout, Abdül Waheed, Mohsan Hanif, Fahad Razaque Mughal, Alessandro Prigione, Na Li, Xiang Fang, Hao Hu, Angela M. Kaindl   +12 more
openalex   +1 more source

FTH1‐Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia

Movement Disorders Clinical Practice, EarlyView.
Sayoni Roy Chowdhury, Sangeetha Yoganathan, Vivek Pai, Andrea LeBlanc‐Millar, Vann Chau, Roberto Mendoza‐Londono, Lucie Dupuis, Carolina Gorodetsky   +7 more
wiley   +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

Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.

MMWR. Morbidity and mortality weekly report, 2016
L. Schuler‐Faccini, E. Ribeiro, I. Feitosa, D. Horovitz, D. Cavalcanti, A. Pessoa, M. Doriqui, J. I. Neri, J. P. Neto, H. Wanderley, M. Cernach, Antonette El-Husny, Marcos V. Pone, C. Serao, M. Sanseverino   +14 more
semanticscholar   +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

Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly [PDF]

, 2000
Marie‐Cécile Nassogne, B. Henrot, Geneviève Aubert, Christine Bonnier, Sandrine Marie, Christine Saint‐Martin, Georges Berghe, Guillaume Sébire, Marie‐Françoise Vincent   +8 more
openalex   +1 more source

Association between Zika virus and microcephaly in French Polynesia, 2013–15: a retrospective study

The Lancet, 2016
S. Cauchemez, M. Besnard, P. Bompard, T. Dub, P. Guillemette-Artur, D. Eyrolle-Guignot, H. Salje, M. D. Kerkhove, V. Abadie, C. Garel, A. Fontanet, H. Mallet   +11 more
semanticscholar   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Novel USP9X Mutation in A Lebanese Patient with Delay and Microcephaly: Case Report and Review of Literature

, 2023
Pierre Ghostine, Marie-Christine Seghaye, Bassam Romanos, Mohamad Fattah, Hicham Mansour   +4 more
openalex   +1 more source

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