Results 181 to 190 of about 572,077 (339)

Predicting risk for pregnancy complications

, 2017
Shalem Leemaqz
openalex   +2 more sources

STATUS EPILEPTICUS COMPLICATING PREGNANCY [PDF]

Obstetrical & Gynecological Survey, 1947
J F, GOODWIN, C W, LAWSON
openaire   +2 more sources

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Long-term follow-up of essential thrombocythemia in young adults: treatment strategies, major thrombotic complications and pregnancy outcomes. A study of 76 patients

, 2010
Francesca Palandri, Nicola Polverelli, Emanuela Ottaviani, Fabio Castagnetti, Michele Baccarani, Nicola Vianelli   +5 more
openalex   +2 more sources

Disseminated herpes simplex virus 2 as a complication of pregnancy

, 2021
Lauren Bougioukas, Rachel Psoinos, David C. Jones, Erin Morris, Andrew J. Hale   +4 more
openalex   +1 more source

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

The effect of probiotic supplementation during pregnancy on pregnancy complications: An umbrella meta-analysis. [PDF]

Medicine (Baltimore)
Gao Q, Sun Y, Qu Y, Li F, Li P.
europepmc   +1 more source

Disruption of IL-18 Signaling as a Novel Pathway in Pregnancy Complications

Hajime Ino, Yumi Horii, Yasuyuki Negishi, Eri Koike, Richard A. Flavell, Shunji Suzuki, Rimpei Morita   +6 more
openalex   +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