Results 121 to 130 of about 62,388 (273)

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Acute symptoms of depression and traumatic stress in men and women who terminate pregnancy after the detection of fetal anomaly: A prospective observational study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
Abstract Objective To assess acute and long‐term stress in men and women after the detection of fetal anomalies leading to pregnancy termination. Design Prospective observational study. Setting Tertiary referral centre for fetal medicine. Population From the initial sample of 180 pregnant women with a fetal anomaly detected by ultrasound examination, a
Mona Bekkhus, Aurora Oftedal, Guttorm Haugen, Berit Mortensen, Anne Kaasen   +4 more
wiley   +1 more source

Paediatric renal transplantation: Paediatric surgeons' perspective

Surgical Practice, EarlyView.
Abstract Renal transplantation is the most effective treatment for paediatric end‐stage renal disease (ESRD), offering advantages in survival, growth and neurocognitive development that surpass other renal replacement therapies (RRT). The paediatric setting, however, introduces distinct complexities that distinguish it from adult practice.
Adrian Chi‐heng Fung, Mary Kim Elizabeth Tan Cudia, Ivy Hau‐yee Chan, Kenneth Kak‐yuen Wong   +3 more
wiley   +1 more source

The disease mutation A77V in Ryanodine receptor RyR2 induces changes in energy conduction pathways in the protein [PDF]

, 2011
Energetically responsive residues of the 217 amino acid N-terminal domain of the cardiac Ryanodine receptor RyR2 are identified by a simple elastic net model. These residues lie along a hydrogen bonded path through the protein.
Burak Erman, Nazan Walpoth
core   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Clinical Challenges in Transition to Adult Care for Young People With Endocrinopathies

Clinical Endocrinology, EarlyView.
ABSTRACT The complexity of transition of pediatric patients to adult care is well recognized, with a multidisciplinary approach widely agreed to be essential. Despite extensive existing literature in this area, practical guidance as to the management of specific medical aspects and how to address these with patients and families is lacking, with little
Margaret Zacharin, Quynh‐Nhu Nguyen
wiley   +1 more source

Skeletal Dysplasia [PDF]

Archives of Disease in Childhood, 1983
openaire   +2 more sources

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Clinical Genetics, EarlyView.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib, Thomas Rio‐Frio, Michel Guipponi, Thierry Nouspikel, Siv Fokstuen, Marc Abramowicz, Philippe Khau Van Kien   +6 more
wiley   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, EarlyView.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source