Results 231 to 240 of about 155,959 (291)

Surviving Unrepaired Tetralogy of Fallot to 43 Years in a Low-Resource Setting: The Oldest Reported Case from Somalia. [PDF]

Int Med Case Rep J
Warfaa AA, Said AI, Abdulahi M, Hassan MS.   +3 more
europepmc   +1 more source

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders [PDF]

, 2018
et al.,, Warner, Brad W
core   +1 more source

Molecular mechanism, diagnosis, and treatment of VACTERL association. [PDF]

Front Pediatr
Sun M, Zhao Q, Yang B, Liu L, Zhou C, Yao X, Bu J, Bian J, Ge S, Zhu Z, Liu B.   +10 more
europepmc   +1 more source

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, Clémence Vanlerberghe, Anne Dieux, Laura Feyereisen, Florence Jobic, Laurence Lode, Gwenael Le Guyader, Florence Petit, Elise Schaefer, Khaoula Zaafrane‐Khachnaoui, Alban Ziegler, Olivier Patat   +13 more
wiley   +1 more source

Case Report: A novel compound heterozygosity of the <i>EVC</i>2 gene identified in a Chinese pedigree with congenital heart defect. [PDF]

Front Pediatr
Xu X, Gao C, Jin K, Zhang L, Yang Y, Zhang J, Ye Y, Shen S.   +7 more
europepmc   +1 more source

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

Clinical Genetics, EarlyView.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux   +5 more
wiley   +1 more source

Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease. [PDF]

HGG Adv
Alankarage D, Leshchynska I, Portelli S, Sipka A, Blue GM, O'Reilly V, Das D, Rath EM, Enriquez A, Troup M, Fine M, Poplawski N, Verlee M, Humphreys DT, Harvey RP, Chapman G, Kirk EP, Winlaw DS, Callewaert B, Chung WK, Ascher D, Giannoulatou E, Dunwoodie SL, Australian Genomics Cardiovascular Genomics Disorders Flagship, Congenital Heart Disease Synergy Study Group.   +24 more
europepmc   +1 more source

White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

Clinical Genetics, EarlyView.
New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini, Maria Pina Concas, Stefania Zampieri, Iris Scala, Claudio Graziano, Anna Maria Innoceta, Marina Trivisano, Angela De Dominicis, Gabriele Trimarchi, Livia Garavelli, Margherita Baldassarri, Ilaria De Maggio, Francesca Mari, Donatella Greco, Paolo Gasparini   +14 more
wiley   +1 more source