Results 281 to 290 of about 131,684 (338)

Integrative Analysis of Key Signalling Pathways in Neural Tube Defects: From Molecular Mechanisms to Therapeutic Strategies. [PDF]

Int J Dev Neurosci
Zheng J, Huo D, Wang K, Zhao H.
europepmc   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Reassessing the Inclusion of Race in Prenatal Screening for Open Neural Tube Defects.

JAMA Pediatr
Butler W, Ramesh RG, von Reusner J, Dugoff L, Srinivas SK, Pierre CC, Herman DS.   +6 more
europepmc   +1 more source

The Critical Role of YAP/BMP/ID1 Axis on Simulated Microgravity-Induced Neural Tube Defects in Human Brain Organoids. [PDF]

Adv Sci (Weinh)
Guo D, Yao B, Shao WW, Zuo JC, Chang ZH, Shi JX, Hu N, Bao SQ, Chen MM, Fan X, Li XH.   +10 more
europepmc   +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

Dolutegravir-induced neural tube defects in mice are folate responsive. [PDF]

AIDS
Tukeman GL, Wei H, Lin YL, Wlodarczyk BJ, Finnell RH, Cabrera RM.   +5 more
europepmc   +1 more source

Status of prevention of neural tube defects post-folic acid fortification of cereal grains in South Africa. [PDF]

Public Health Nutr
Kancherla V, Randall P, Christianson AL, Malherbe HL.   +3 more
europepmc   +1 more source

A Systematic Review of Parental Occupational Pesticide Exposure and Geographical Proximity to Agricultural Fields in Association with Neural Tube Defects. [PDF]

Toxics
Felisbino K, Milhorini SDS, Kirsten N, Sato MY, Silva DPD, Kulik JD, Guiloski IC.   +6 more
europepmc   +1 more source

Maternal Smoking during Pregnancy and its effects on Neural Tube Defects. [PDF]

Iran J Child Neurol
Elahi Z, Hassanzadeh F, Satarzadeh M.
europepmc   +1 more source