Results 101 to 110 of about 163,637 (267)

Traditional Nutritional Beliefs and Practices Among Mothers in Riyadh During the Puerperal Period: a Cross-Sectional Study

open access: yesInternational Journal of Women's Health
Anwar M Alhashem, Fay A Alrasheed, Latifa K Alwallan, Maram F Almutairi, Yara M Bin Khathran, Yasmeen A Alenzi, Rehab A Aldahash Department of Health Sciences, College of Health and Rehabilitation Sciences, Princess Nourah bint Abdulrahman University ...
Alhashem AM   +6 more
doaj  

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

open access: yesAmerican 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

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

open access: yesAmerican 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

Chemoenzymatic Synthesis of Well‐Defined α(2,8)‐ and α(2,9)‐Linked Oligosialosides

open access: yesAngewandte Chemie, EarlyView.
Well‐defined α(2,8)‐ and α(2,9)‐linked oligosialic acids of different lengths can be prepared by employing recombinant bacterial polysialyltransferases in combination with chemically modified CMP‐Neu5Ac derivatives. After transfer, a sialoside is formed bearing an artificial entity, which blocks further glycosylation.
Jelle A. Fok   +4 more
wiley   +2 more sources

Differences in Pelvic Organ Prolapse and Diastasis Recti Abdominis Between Primiparous and Age-Matched second-Parous Females After Vaginal Delivery: A Retrospective Cohort Study

open access: yesInternational Journal of Women's Health
Tangdi Lin,1 Wenjia Lou,1 Jung hung Chien,2 Xue Zhang,1 Huanhuan Wei,1 Guorong Fan,1 Lan Zhu3 1Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Chinese
Lin T   +6 more
doaj  

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

The effect of interpersonal psychotherapy on marriage adaptive and postpartum depression in Isfahan

open access: yesInternational Journal of Preventive Medicine, 2013
Background: Regarding high prevalence and injurious consequences of postpartum depression, the aim of the present work is the study of the effect rate of interpersonal psychotherapy on marriage adaptive and postpartum in women. Method: The present study
Mahnaz Hajiheidari   +2 more
doaj  

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena   +13 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

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