Results 231 to 240 of about 132,851 (307)

Goal-concordant outcomes in twin pregnancies: impact of chorionicity, fetal weight discordance, and fetal surgery in a 12-year prospective cohort study. [PDF]

Front Med (Lausanne)
Hašlík L, Krofta L, Hanulíková P, Halaj M, Beňová B, Hanáček J.   +5 more
europepmc   +1 more source

Against So-Called Embryo Reduction : A Statement [PDF]

, 1998
The Center for Bioethics Catholic University of the Sacred Heart Rome
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

The effect of late-gestational anemia on maternal and neonatal outcomes in twin pregnancies: a retrospective cohort study. [PDF]

Ann Med
Li X, Huang Y, Chen J, Cao X, Zhang Y, Li Y, Wang K, Zhao F, Ren S, Wang S, Qu P.   +10 more
europepmc   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Longitudinal changes in vitamin D during twin pregnancy: association with maternal-neonatal outcomes. [PDF]

Front Nutr
Dai Z, Zhang L, Shi X, Zheng Y, Long S, Zou X, Wei J.   +6 more
europepmc   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Reference interval for 24-hour urinary protein excretion in uncomplicated women with twin pregnancies. [PDF]

AJOG Glob Rep
Deng Y, Liu L, Lu D, Wu Q, Li Y, Yang J.
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Hepcidin, ferroportin, and hemoglobin as predictors of iron deficiency anemia risk and perinatal outcomes in twin pregnancy. [PDF]

Front Med (Lausanne)
Zhong Y, Deng L, Xu X, Zhou J, Yan J, Luo J.   +5 more
europepmc   +1 more source