Results 191 to 200 of about 89,906 (291)

Motherhood choice in multiple sclerosis (MoMS) - Pilot trial of web-based decision support. [PDF]

PLoS One
Stahl LS, Hickstein J, Köpke S, Hellwig K, Heesen C, Rahn AC.   +5 more
europepmc   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Tracing the developmental arc of matrescence: a phenomenological study of urban Indian mothers. [PDF]

BMC Womens Health
Mazumdar K, Kour P.
europepmc   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Persistent inequalities in adolescent motherhood in Peru (1981-2017): From wide approaches to intercategorical mapping. [PDF]

SSM Popul Health
Francke P, Huaroto C, Mendoza R, Vivas C.   +3 more
europepmc   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

Fertility in the Shadow of Cancer: Experiences of Reproductive Loss Among Women with Gynecological Cancers in Ghana. [PDF]

PLoS One
Afaya A, Amenah DB, Chambas F, Aidoo P, Gideon OA, Vidzor M, Aidoo B, Afaya RA, Avane MA, Daniels-Donkor SS, Daliri DB, Salia SM.   +11 more
europepmc   +1 more source