Results 81 to 90 of about 963,163 (276)

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

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

Psychometric properties of the Turkish version of the neonatal eating assessment tool-breastfeeding (NeoEAT–Breastfeeding)

BMC Nursing
Background Literature reports indicate that breastfeeding is often ended earlier than planned, within the first 6 months. Assessment tools can help nursing professionals identify early breastfeeding problems to identify interventions to support families ...
Duygu Gözen, Burcu Aykanat Girgin, Britt Pados, Fatma Çarikçi, Yağmur Kul   +4 more
doaj   +1 more source

The process of establishing implementing and maintaining a social support infant feeding programme [PDF]

, 2006
Objective To describe the process of establishing and implementing a social support infant feeding intervention. Design This paper outlines the initial stages of a randomised controlled trial which assessed the effectiveness of a social support ...
Watt, R. G., Dowler, E, Tull, K. I., Dowler, Elizabeth, Russell, JJ, McGlone, P, Russell, J. J., Tull, KI, Watt, RG   +8 more
core   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

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, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Breast feeding and co-morbidities on mothers and infants in two main hospitals of Diyala Province, Baquba, Iraq

Diyala Journal of Medicine, 2018
Background: Breast milk was the full required physiological food of human infants. Optimally  initiation of immediate breastfeeding exclusively after birth until 6 months of infant age, and keeping infant on breastfeeding with age dependent and ...
Kareem Assi Obaid, Aseel Jasem Mohammed
doaj   +2 more sources

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

C─S Bond Formation of Aryl Germanes

Angewandte Chemie, EarlyView.
Site‐selective C─S bond formation of aryl germanes, even in the presences of other functional groups such as silane or boron derivatives, is described. The protocol operates under metal‐free conditions at room temperature without the need of inert atmosphere.
Jaime Ponce‐de‐León, Markus D. Schoetz, Amit Dahiya, Susanna L. Kirsten, Kristina Deckers, Steffen Benkhoff, Franziska Schoenebeck   +6 more
wiley   +2 more sources

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source