Results 221 to 230 of about 378,998 (299)

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

Long-term persistence, safety and effectiveness of nusinersen in spinal muscular atrophy: a population-based study. [PDF]

J Neurol
Aragon-Gawinska K, Nungo-Garzon NC, Muelas N, Sivera R, Sevilla T, Hervas D, Pitarch-Castellano I, Vazquez-Costa JF.   +7 more
europepmc   +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

Risdiplam treatment in adults with spinal muscular atrophy: a single-center, real-world study. [PDF]

BMC Neurol
Leonardis L, Pukšič Šimek P, Kadenšek S, Koritnik B.   +3 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

From Survival to Participation: Early Powered Mobility in the New Era of Spinal Muscular Atrophy Type I. [PDF]

J Clin Med
Díaz-López CI, Palomo-Carrión R.
europepmc   +1 more source

Comparison of rat hypertrophic scar models: Caudal tension model with superior pathological consistency

Animal Models and Experimental Medicine, EarlyView.
This study compared hypertrophic scar (HS) formation in SD rats at ear, back, and tail sites with or without mechanical tension. The ear model healed spontaneously by day 30. Dorsal full‐thickness excision (1 × 8 cm) produced moderate HS. In contrast, the tail tension model showed the greatest scar thickness, fibroblast density, collagen deposition ...
Lingyi Zhan, Hong Xiang, Yaohui Kong, Yunfeng Lei, Shuqi Xiao, Shiqi Chen, Jiaming Li, Ziwei Li, Rui Ni, Dan Peng, Yao Liu   +10 more
wiley   +1 more source

Spinal muscular atrophy with five <i>SMN2</i> copies: Phenotypic heterogeneity and implications for newborn screening and treatment decisions. [PDF]

Front Neurol
Parmova O, Adamova B.
europepmc   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source