Results 191 to 200 of about 50,981 (257)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Lymphocytic Choriomeningitis Virus Seroprevalence among Urban Pregnant Women and Newborns, Philadelphia, Pennsylvania, USA, 2021. [PDF]

Emerg Infect Dis
Flannery DD, Cossaboom CM, Flietstra TD, Barboza AZ, Burris HH, Puopolo KM, Gibbons A, Cannon DL, Krapiunaya I, Sayyad L, Sadigh KS, Smith K, Montgomery JM, Shoemaker T, Klena JD, Gordon SM.   +15 more
europepmc   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Prenatal (1-3)IGF-1 Treatment Is Ineffective and Behaviorally Detrimental in a Rat Model of Cortical Malformation. [PDF]

Brain Behav
Lee M, Kim EJ, Yum MS.
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Uterus didelphys without vaginal septum identified intraoperatively at cesarean delivery: a case report. [PDF]

Int J Surg Case Rep
Al-Saad KG, Omar Barghash H, Sllo K, Alshikh Y, Adwan D.   +4 more
europepmc   +1 more source

Pulmonary arteriovenous malformation in pregnancy: a case report and literature review. [PDF]

Matern Health Neonatol Perinatol
Saha PK, Kumar A, Joshi B, Prabhakar A, Bagga R.   +4 more
europepmc   +1 more source

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances. [PDF]

Biomedicines
Hu J, Xu X, Jiang P, Huang R, Yuan J, Lu L, Han J.   +6 more
europepmc   +1 more source

Rethinking fetal central nervous system anomalies: predicting central nervous system anomalies with corpus callosum to head circumference and occipitofrontal diameter ratios. [PDF]

BMC Pregnancy Childbirth
Duymuş AC, Bozbay N, Kılıç Ş, Yıldırım O, Örgül G, Pekin AT.   +5 more
europepmc   +1 more source