Results 51 to 60 of about 126,941 (264)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Patient-Choice Vaginal Delivery? [PDF]

The Annals of Family Medicine, 2006
Patient-choice cesarean delivery is increasing in the United States. The American College of Obstetricians and Gynecologists supports this option, citing ethical premises of autonomy and informed consent, despite a lack of evidence for its safety. This increase in patient-choice cesarean delivery occurs during a time when women with a breech-presenting
Lawrence M, Leeman, Lauren A, Plante
openaire   +2 more sources

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Sonographic Cervical Shortening after Labor Induction is a Predictor of Vaginal Delivery [PDF]

Revista Brasileira de Ginecologia e Obstetrícia, 2016
Objective: Analyzing if the sonographic evaluation of the cervix (cervical shortening) is a prognostic marker for vaginal delivery. Methods: Women who underwent labor induction by using dinoprostone were enrolled.
Ugo Indraccolo, Gennaro Scutiero, Pantaleo Greco   +2 more
doaj   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Maternal‐Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Emma R. Sutton, Ariane Beauvais, Rebecca Yaworski, Hugh J. McMillan, Rashmi Kothary   +4 more
wiley   +1 more source

Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection

The Anatomical Record, EarlyView.
Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson, Pierre Frémondière, Kaspar Staub, Philipp Mitteroecker, Barbara Fischer, Martin Haeusler, Nicole M. Webb   +6 more
wiley   +1 more source

Obstetric mode of delivery and risk of attention deficit hyperactivity disorder in children: insights from the Quebec pregnancy cohort

BMC Pregnancy and Childbirth
Background Attention deficit hyperactivity disorder (ADHD) prevalence in Canadian children increased 3.5-fold between 1999 and 2012, influenced by genetics and perinatal environmental factors. During the same period, cesarean section rates rose from 18.7%
Odile Sheehy, Malika Ferroum, Jessica Gorgui, Jin-Ping Zhao, Anick Berard   +4 more
doaj   +1 more source

Application of predictive model for vaginal birth after caesarean delivery

International Journal of Nursing Sciences, 2018
Medical practitioners are concerned with the selection of delivery mode after caesarean delivery. Several researchers have developed numerous models for predicting vaginal birth after caesarean delivery.
Ruchi Pan, Libin An, Wanwan Zhang, Wentao Li   +3 more
doaj   +1 more source