Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa +2 more
wiley +1 more source
Increased Susceptibility to Malaria during the Early Postpartum Period [PDF]
, 2000 Nafissatou Diagne +7 more
openalex +1 more source
The Prediction of Depression in the Postpartum Period [PDF]
, 1990 Eight thousand five hundred and fifty-six women enrolled in the Mater-University of Queensland Study of Pregnancy were surveyed to investigate the relationship between potential risk factors for depression and mood states in the postpartum period ...
King, B., Morrison, J., Najman, J. M.
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo +4 more
wiley +1 more source
Female genital mutilation (FGM) management during pregnancy, childbirth and the postpartum period [PDF]
, 2000 Hamid Rushwan
openalex +1 more source
Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz +3 more
wiley +1 more source
Secretion of inhibin A and inhibin B throughout pregnancy and the early postpartum period in chimpanzees [PDF]
, 2001 Masahiro Kondo +13 more
openalex +1 more source
A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas +2 more
wiley +1 more source
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source
Obstetric profile and complications of puerperas assisted in home visits [PDF]
Rev Rene, 2013 Descriptive exploratory study with quantitative approach that aimed to trace the obstetric profile and identify the major problems/complications faced by women assisted by the Extension Project “Home Visit in Immediate Postpartum”, of the School of ...
Jéssica Medeiros Minasi +5 more
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