Results 171 to 180 of about 218,782 (270)

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren, Louisa Kalsner, Jessica M. Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A. Audano, Peter N. Robinson, Mark D. Adams, Melissa A. Kelly, Adam P. Matson   +10 more
wiley   +1 more source

Females with X-Linked Muscle Disorders: an underestimated patient population. [PDF]

Acta Myol
Politano L.
europepmc   +1 more source

Six-year experience of preimplantation genetic diagnosis (PGD) for single gene disorders and chromosomal abnormalities at CHA Institute [PDF]

, 2002
T.J. Kim, K.Y. Cha
openalex   +1 more source

Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli, Erika Loi, Federica Zanardini, Giovanna Baldoni, Francesca Novara, Serena Panigada, Roberto Ciccone, Maria Rosa Cutrì, Alice Bertoletti, Lorenzo Pinelli, Elisa Fazzi   +10 more
wiley   +1 more source

Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries

Birth Defects Research, Volume 114, Issue 20, Page 1417-1426, December 1, 2022., 2022
Abstract Background Younger mothers are at a greater risk of having a pregnancy with gastroschisis and the risk is higher in the United Kingdom than other European countries. Gastroschisis is thought to be a vascular disruption anomaly and the aim of this study was to analyze the prevalence of other possible vascular disruption anomalies to determine ...
Joan K. Morris, Diana Wellesley, Elizabeth Limb, Jorieke E. H. Bergman, Agnieszka Kinsner‐Ovaskainen, Marie Claude Addor, Jennifer M. Broughan, Clara Cavero‐Carbonell, Carlos M. Dias, Luis‐Javier Echevarría‐González‐de‐Garibay, Miriam Gatt, Martin Haeusler, Ingeborg Barisic, Kari Klungsoyr, Nathalie Lelong, Anna Materna‐Kiryluk, Amanda Neville, Vera Nelen, Mary T. O'Mahony, Isabelle Perthus, Anna Pierini, Judith Rankin, Anke Rissmann, Florence Rouget, Geraldine Sayers, Sarah Stevens, David Tucker, Ester Garne   +27 more
wiley   +1 more source

Ultrasonography for disorders of sex development in pediatrics. [PDF]

Front Pediatr
Wu Y, Tao A, Jing J, Zhuang H.
europepmc   +1 more source

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p13.3-12.1

, 2000
G. N. KAVASLAR, Suna Önengüt, Orhan Derman, A. Kaya, Aslıhan Tolun   +4 more
openalex   +1 more source

Further genetic evidence for a panic disorder syndrome mapping to chromosome 13q [PDF]

, 2003
Steven P. Hamilton, Abby J. Fyer, Martina Durner, Gary A. Heiman, Ada Baisre, Susan E. Hodge, James A. Knowles, Myrna M. Weissman   +7 more
openalex   +1 more source

Natural History of NAA15‐Related Neurodevelopmental Disorder Through Adolescence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The NatA N‐terminal acetyltransferase complex is composed of the NAA10 catalytic subunit and the auxiliary subunits NAA15 and HYPK. While those with variants in the enzymatic subunit develop Ogden Syndrome, individuals with variants in the NAA15 coding region develop NAA15‐related neurodevelopmental syndrome, which presents with a wide array ...
Rikhil Makwana, Carolina Christ, Rahi Patel, Elaine Marchi, Randie Harpell, Gholson J. Lyon   +5 more
wiley   +1 more source

Chromosomal breaks at the origin of small tandem DNA duplications

BioEssays, Volume 45, Issue 1, January 2023., 2023
Small tandem DNA duplications form a specific mutational signature frequently found in human disease alleles and cancer genes. Here we hypothesize that these duplications mainly arise at chromosomal DNA breaks that result from two closely located single‐stranded nicks, through error‐prone repair by the non‐homologous end‐joining pathway. Abstract Small
Joost Schimmel, Marloes D. van Wezel, Robin van Schendel, Marcel Tijsterman   +3 more
wiley   +1 more source