Results 131 to 140 of about 2,167,838 (317)

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Congenital abnormalities associated with Zika virus infection-Dengue as potential co-factor? A systematic review. [PDF]

PLoS Negl Trop Dis, 2021
Petzold S, Agbaria N, Deckert A, Dambach P, Winkler V, Drexler JF, Horstick O, Jaenisch T.   +7 more
europepmc   +1 more source

Persistent Erythematous Telangiectatic Condition of Feet, Associated with a Congenital-Developmental Abnormality of Body-Build Allied to Arachnodactylia [PDF]

, 1933
Florian Weber
openalex   +1 more source

Motor Abnormalities and Epilepsy in Infants and Children With Evidence of Congenital Zika Virus Infection

Pediatrics, 2018
A. Pessoa, V. van der Linden, M. Yeargin-Allsopp, M. D. Carvalho, E. Ribeiro, K. Van Naarden Braun, M. Durkin, Daniel M. Pastula, Jazmyn T Moore, C. Moore   +9 more
semanticscholar   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Interstitial 20p13 microdeletion including PRNP and adjacent genes in a fetus with congenital abnormalities-First case report. [PDF]

Clin Case Rep, 2021
Onur P, Shaver M, Iqbal MA.
europepmc   +1 more source

Steroid abnormalities and the developing brain: Declarative memory for emotionally arousing and neutral material in children with congenital adrenal hyperplasia

, 2008
Françoise S. Maheu, Deborah P. Merke, Elizabeth Schroth, Margaret F. Keil, Julie Hardin, Kaitlin Poeth, Daniel S. Pine, Monique Ernst   +7 more
openalex   +1 more source

Mass screening for early detection of congenital kidney and urinary tract abnormalities in infancy [PDF]

, 2003
Junko Yoshida, Masami Tsuchiya, Noriko Tatsuma, Mutsumi Murakami   +3 more
openalex   +1 more source

Neurodevelopmental Abnormalities and Congenital Heart Disease: Insights Into Altered Brain Maturation.

Circulation Research, 2017
Paul D. Morton, N. Ishibashi, R. Jonas
semanticscholar   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source