Results 71 to 80 of about 7,236 (211)

Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure

Prenatal Diagnosis, EarlyView.
Christopher Connolly, Brian Muchmore, Mallory Wagner, Zineb Ammous, Mohannad Ibrahim, Catherine E. Keegan, Elizabeth G. Ames   +6 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

The congenital clubfoot – immunohistological analysis of the extracellular matrix

, 2018
Arno Kerling,1 Gisela Stoltenburg-Didinger,2 Lena Grams,1 Uwe Tegtbur,1 Hauke Horstmann,1 Momme Kück,1 Holger Mellerowicz3 1Institute of Sports Medicine, Hannover Medical School, Hannover, Germany; 2Gisela Stoltenburg-Didinger, Institute of Cell and
Stoltenburg-Didinger G, Horstmann H, Grams L, Tegtbur U, Mellerowicz H, Kerling A, Kück M   +6 more
core  

Somerset Maugham's Failings

Critical Quarterly, EarlyView.
Allan Hepburn
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Analysis of Variation In Clubfoot Candidate Genes

, 2010
Isolated clubfoot, a common birth defect occurring in more than 135,000 livebirths worldwide each year, is associated with significant health care and financial burdens.
Ester, Audrey R
core  

Onset of developmental dysplasia of the hip during clubfoot treatment

, 2011
Developmental dysplasia of the hip and idiopathic clubfoot are common musculoskeletal conditions in the pediatric orthopedic population. Although ultrasound or radiographic screening is generally recommended to rule out occult hip dysplasia, it has been ...
Bernardo Vargas-Barreto, André Kaelin, Geraldo de Coulon, De Coulon, Geraldo, Vargas-Barreto, Bernardo, Canavese, Federico, Kaelin, André, Vargas Barreto, Bernardo, Federico Canavese   +8 more
core   +1 more source

Incidence of congenital idiopathic clubfoot in the Netherlands

, 2018
The incidence of clubfoot patients is an important factor for centralization of care. Medical records of 21 accredited clubfoot centers were selected using the diagnosis treatment codes and checked to confirm diagnosis. All idiopathic clubfoot cases born
Max Reijman, Van Der Steen, Marieke, Marieke van der Steen, Arnold T. Besselaar, Kamp, Maud C., Maud C. Kamp, Reijman, Max, Besselaar, Arnold T.   +7 more
core   +1 more source

Duration and outcome of orthotic treatment in children with clubfoot – a four-year follow-up national register study of Swedish children born between 2015 and 2017

BMC Musculoskeletal Disorders
Background The Ponseti method for treating clubfoot consists of initial treatment with serial casting accompanied by achillotenotomy if needed, followed by the maintenance phase including treatment with a foot abduction orthosis (FAO) for at least four ...
Josefine Eriksson Naili, Malin Lindeberg, Anna-Clara Esbjörnsson   +2 more
doaj   +1 more source

Tracing neurodevelopment and growth pattern in six-year-old children with idiopathic clubfoot: a national cohort study

BMC Musculoskeletal Disorders
Study design Population-based retrospective cohort study. Objectives The developmental impact of idiopathic clubfoot on children remains underexplored. This study investigates neurodevelopment and physical growth in children with idiopathic clubfoot up ...
Sung Tan Cho, Ha-Na Yoo, Simho Jeong, Ju Hee Kim, Eun Kyo Ha, Bo Eun Han, Wongthawat Liawrungrueang, Man Yong Han, Soonchul Lee   +8 more
doaj   +1 more source