Results 301 to 310 of about 1,938,552 (387)

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Adherence to guidelines on quality neonatal resuscitation practices among healthcare professionals in Ghana: an observational study. [PDF]

BMJ Open
Salia SM, Kaba RA, de Haas B, Stekelenburg J.   +3 more
europepmc   +1 more source

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad, Claire Lawn, Honor Gartland, Louisa Steel, Caitlin Barns‐Jenkins, Greg James, Eleanor Hay, Andrew O. M. Wilkie, Louise C. Wilson   +8 more
wiley   +1 more source

Correlation of Preterm Infant Salivary Cortisol Levels with Scores on the Neonatal Infant Stressor Scale

Journal of Scientific Innovation in Medicine, 2019
Shaliz Pourkaviani, Xueying Zhang, Emily Spear, Rebecca Satty, Annemarie Stroustrup-Smith, Madiline D’Agostino   +5 more
doaj   +1 more source

Association between total oxytocin dose and maternal and neonatal morbidity during labour induction: a retrospective study. [PDF]

BMC Pregnancy Childbirth
Payrastre C, Debost-Legrand A, Roussel L, Accoceberry M, Rouzaire M, Gallot D.   +5 more
europepmc   +1 more source

Long-term effects of neonatal pain.

Seminars in Fetal & Neonatal Medicine, 2019
S. Walker
semanticscholar   +1 more source

SPONTANEOUS ACTIVITY OF NEONATALLY ESTROGENIZED FEMALE RATS

, 1968
Seiichiro Kawashima, Akira Shinoda
openalex   +2 more sources

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Gestational reactive hypoglycaemia and adverse pregnancy outcomes: a systematic review and meta-analysis. [PDF]

BMC Pregnancy Childbirth
Mahindra MP, Jie M, Mapindra MP, Rehman S, Vaughan O, Hillman S, David AL, Siassakos D.   +7 more
europepmc   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source