Results 121 to 130 of about 4,270,416 (296)
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Background: Bangladesh has achieved remarkable progress in reducing maternal mortality, yet postpartum deaths remain a significant issue. Emphasis on quality postnatal care (qPNC) is crucial, as increased coverage alone has not sufficiently reduced ...
Khatun, Hafeza +11 more
core +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
Factors Influencing Awareness of Postnatal Care Services in Basse, the Gambia
, 2015 [[abstract]]Postnatal care is uncommon in Basse Major Health Centre, the Gambia, and where it is available the quality is often poor. Adequate awareness of postnatal care can help reduce mortality and morbidity among mothers and their babies.
沙歐曼, Sarjo, Ousman
core
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 +10 more
wiley +1 more source
What women want from postnatal care.
, 2007 Nursing lecturer at the University of Salford Julie Wray and consultant in public health at Trafford Primary Care Trust Lisa Davies present the results of a survey to determine what mothers wanted most from postnatal care and the many areas of postnatal ...
Davies, L, Wray, J
core
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 +9 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Romancing the Carer - Intimate Relationships and Family Caring
, 2017 The topic of sexuality and romantic intimacy is not an easy one for many to discuss; in particular is it is often seen as secondary to the difficulties being faced in other aspects of life and in the relationship.
Care Alliance Ireland
core
Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh +5 more
wiley +1 more source