Results 201 to 210 of about 39,956 (278)

The use and experience of the national disability insurance scheme for Australians with skeletal dysplasia: a mixed-methods study. [PDF]

Orphanet J Rare Dis
Lai JHJ, Ireland P, Nguyen D, Woodbury A, Pacey V.   +4 more
europepmc   +1 more source

Dedicated First‐Trimester Anomaly Scan in a National Prenatal Screening Program and Timing of Diagnosis: The Prospective IMITAS Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 7, Page 1373-1380, June 2026.
ABSTRACT Objective To determine the diagnostic yield of a nationally implemented first‐trimester anomaly scan (FTAS), compared to standard obstetric care with a second‐trimester anomaly scan. Design Prospective observational cohort study. Setting Nationwide prenatal screening program in the Netherlands.
Kim Bronsgeest, Eline E. R. Lust, Lidewij Henneman, Neeltje Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Nan van Geloven, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Elisabeth van Leeuwen, Gwendolyn T. R. Manten, Eva Pajkrt, Mireille N. Bekker, Monique C. Haak, the IMITAS study group, Eline S. van den Akker, Marcel van Alphen, Jelle H. Baalman, Babette A. M. Braams‐Lisman, Addy P. Drogtrop, Katja de Graaff, Anjoke J. M. Huisjes, Marloes E. van Huizen, Piet Hummel, Els A. P. de Jong, Ineke Krabbendam, Simone Lunshof, Marinka S. Post, Robbert J. P. Rijnders, Eva Stekkinger, Floortje Vlemmix, Tatjana Vogelvang, Karlijn C. Vollebregt, Sabina de Weerd, Lia Wijnberger, Wim J. van Wijngaarden   +38 more
wiley   +1 more source

A Family of <i>LBR</i> Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly. [PDF]

Mol Syndromol
Dirimtekin E, Kapazan Ç, Yılmaz B, Yanık AM, Geckinli BB.   +4 more
europepmc   +1 more source

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

Clinical Genetics, Volume 109, Issue 6, Page 1059-1063, June 2026.
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

Functional performance and symptomatology of adults with skeletal dysplasia across self-care, mobility, and cognition-a cross-sectional study. [PDF]

JBMR Plus
Nguyen D, Ireland P, Pacey V.
europepmc   +1 more source

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

Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.
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

Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia. [PDF]

J Clin Immunol
Mehta SS, Wash U./N. I. H. EXTL3 Consortium, Bosticardo M, Notarangelo LD, Kitcharoensakkul M.   +4 more
europepmc   +1 more source

Diagnosing Systemic Mastocytosis: State of the Art

International Journal of Laboratory Hematology, Volume 48, Issue 3, Page 551-560, June 2026.
ABSTRACT With the advent of effective multikinase and selective tyrosine kinase inhibitors in systemic mastocytosis, diagnosing this rare disease has been critical to improving patient morbidity and mortality. This state‐of‐the‐art review interprets the international diagnostic criteria, including differences between the WHO 5th edition classification ...
Anton Rets, Tracy I. George
wiley   +1 more source

Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection. [PDF]

Mol Genet Genomic Med
Cui LM, Hu HY, Zhai XM, Qi MF, Liu YM, Han CY, Zhang J, Shen M, Xiang YL, Chen WQ, Yang K, Zhang DL, Xing HX.   +12 more
europepmc   +1 more source

Distal Adding‐On After Selective Thoracolumbar/Lumbar Fusion for Lenke 5C AIS: The Role of Proximal Coronal Construct Position and Postoperative UIV Translation

Orthopaedic Surgery, Volume 18, Issue 6, Page 1191-1202, June 2026.
In 74 Lenke 5C AIS patients undergoing selective thoracolumbar/lumbar fusion, distal adding‐on occurred in 18 (24%) at ≥ 2‐year follow‐up. Multivariable analysis identified postoperative upper instrumented vertebra translation as an independent factor associated with adding‐on, highlighting the importance of construct‐level coronal alignment beyond LIV
Xiaohan Ye, You Du, Yiwei Zhao, Ziquan Li, Yang Yang, Chenkai Li, Guanfeng Lin, Shengru Wang, Jianguo Zhang   +8 more
wiley   +1 more source