Results 211 to 220 of about 3,433,369 (265)

Reproductive carrier screening among Chinese couples experiencing unexplained recurrent pregnancy loss. [PDF]

BMC Pregnancy Childbirth
Duan H, Jiang Z, Zhang Y, Zhou C, Li J.
europepmc   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Ulipristal acetate for use in medical management of early pregnancy loss: a pilot feasibility study. [PDF]

BMC Pregnancy Childbirth
Hagey JM, Tang JH, Morse JE, Bryant AG.
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Two-way tuning of the decidual natural killer cells and recurrent pregnancy loss. [PDF]

Sci Rep
Krechetov SP, Khoroshkeeva OV, Yankevich TE, Shirokov YV, Borovikov PI, Krechetova LV, Tetruashvili NK, Trofimov DY, Sukhikh GT.   +8 more
europepmc   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Confidence and Care: Understanding Staff Needs in Supporting Families Through Pregnancy Loss in Gynaecological Settings. [PDF]

Nurs Res Pract
Heaney S, Aventin Á, Galeotti M.
europepmc   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Preconception dietary patterns in association with live birth and pregnancy loss: a couples-based approach. [PDF]

Fertil Steril
Busse KR, Peri B, Ahmed D, Schisterman EF, Caniglia EC, Sealy NRZ, Mills JL, Johnstone EB, Mendola P, Ryan GL, Peterson CM, Hotaling JM, Hinkle SN, Mumford SL.   +13 more
europepmc   +1 more source