Results 41 to 50 of about 9,297 (176)

Noonan syndrome‐associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish

Molecular Genetics & Genomic Medicine, 2020
Background Variants in the LZTR1 (leucine‐zipper‐like transcription regulator 1) gene (OMIM #600574) have been reported in recessive Noonan syndrome patients. In vivo evidence from animal models to support its causative role is lacking. Methods By CRISPR‐
Yu Nakagama, Norihiko Takeda, Seishi Ogawa, Hiroyuki Takeda, Yoshiyuki Furutani, Toshio Nakanishi, Tatsuyuki Sato, Yoichiro Hirata, Akira Oka, Ryo Inuzuka   +9 more
doaj   +1 more source

Patient engagement in the design of clinical research in Noonan syndrome spectrum disorders: a scoping review

Orphanet Journal of Rare Diseases, 2021
Background Noonan syndrome spectrum disorders are a group of disorders caused by mutations in several genes of the RAS/MAPK pathway. Because of a highly heterogeneity and variable phenotypical manifestations of the disorders, these children and adults ...
Dagmar K. Tiemens, Jacqueline Nugteren, Erika Leenders, Ellen Wingbermühle, Carina A. C. M. Pittens, Jos M. Th. Draaisma   +5 more
doaj   +1 more source

Noonan Syndrome

Sharma L, Winters R, Corado A.
europepmc   +2 more sources

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, EarlyView.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Severe thrombocytopenia and intracranial hemorrhage in a newborn with Noonan syndrome and neonatal alloimmune thrombocytopenia

Platelets, 2022
Noonan syndrome (NS) is a genetic disorder with distinctive physical features and often multiple organ involvement. Bleeding disorders are reported in over half of patients with NS, including thrombocytopenia and platelet dysfunction. Neonatal alloimmune
Rebecca Carter, Anna-Kaisa Niemi
doaj   +1 more source

What Do Patient‐Reported Sleep Measures Assess? A Content Analysis

Journal of Sleep Research, EarlyView.
ABSTRACT Current systematic review analysed the content of generic patient‐reported sleep measures (PRSMs) using (1) the International Classification of Functioning, Disability and Health (ICF) and (2) semantic analysis. A literature search identified 27 PRSMs applicable across multiple sleep disorders.
Marie De Bruecker, Elke Veirman, An Mariman, Dirk A. Pevernagie, Katrien B. C. Hertegonne, Fré A. Bauters, Dimitri M. L. Van Ryckeghem, Geert Crombez   +7 more
wiley   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2151-2156, September 2026.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Zespół Noonan u 8-letniej pacjentki – opis przypadku = 8 - year - old patient with Noonan syndrome - case report

Journal of Education, Health and Sport, 2016
Grabiec Aleksandra, Szczepkowska Aleksandra, Osica Piotr, Janas‑Naze Anna. Zespół Noonan u 8-letniej pacjentki – opis przypadku = 8 - year - old patient with Noonan syndrome - case report. Journal of Education, Health and Sport. 2016;6(12):575-581. eISSN
Aleksandra Grabiec, Aleksandra Szczepkowska, Piotr Osica, Anna Janas-Naze   +3 more
doaj   +3 more sources

Executive and Social Functioning in Children and Adolescents With Noonan Syndromes: Cognition and Behavior

JAACAP Open
Objective: The current study aims to examine executive and social functioning in children and adolescents with Noonan syndromes, which contributes to the understanding of the cognitive and behavioral profile of this population and possible treatment ...
Jennifer Kramer, MSc, Renée L. Roelofs, PhD, Ellen Wingbermühle, PhD, Sara Pieters, PhD, Jos Egger, PhD   +4 more
doaj   +1 more source