Results 171 to 180 of about 240,168 (331)

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)

Molecular Genetics &Genomic Medicine, Volume 13, Issue 8, August 2025.
DAIPT is a rare genetic disease caused by PIEZO2 gene mutations. We identified two novel variants of the gene, a nonsense and an intronic substitution, in a child with suspected DAIPT. Functional studies confirmed the effect of the nonsense variant and demonstrated the pathogenicity of the intronic one by providing a conclusive diagnosis of DAIPT. This
Michela Bellardita, Ferruccio Romano, Ludovica Menta, Joana Soraia Martinheira Da Silva, Marzia Ognibene, Simona Baldassari, Marco Di Duca, Chiara Panicucci, Serena Baratto, Noemi Brolatti, Marina Pedemonte, Chiara Fiorillo, Claudio Bruno, Marcello Scala, Federico Zara, Francesca Faravelli, Francesca Madia, Serena Cappato, Renata Bocciardi, Valeria Capra   +19 more
wiley   +1 more source

RADICAL CURE OF INGUINAL AND FEMORAL HERNIA, WITH A REPORT OF EIGHT HUNDRED AND FORTY-FIVE CASES

, 1901
WILLIAM B. COLEY
openalex   +2 more sources

Auto-Reduction ‘En Masse’ of an Inguinal Hernia [PDF]

, 1955
A Henry Millard
openalex   +1 more source

Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome

Clinical Genetics, Volume 108, Issue 2, Page 134-145, August 2025.
Early‐onset Marfan syndrome (eoMFS) is a rare disorder with atrioventricular valve insufficiency being the most severe symptom. We propose to regard eoMFS as a spectrum, ranging from a severe disorder life‐threatening already before or immediately after birth, to a disorder with a better survival rate, creating a window for atrioventricular valve ...
Eva C. van der Leest, Annelies E. van der Hulst, Gerard Pals, Lidiia Zhytnik, Lillian Lai, Caroline Jacquemart, Lindsay Mills, Michiel Houben, Petr Jira, Bert L. Lunshof, Jessica Warnink‐Kavelaars, Vivian de Waard, Leonie A. Menke   +12 more
wiley   +1 more source

Discussion on the Operative Treatment of Uncomplicated Inguinal Hernia [PDF]

, 1937

openalex   +1 more source

CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

Clinical Genetics, Volume 108, Issue 2, Page 146-155, August 2025.
This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli, Rosangela Artuso, Annarita Giliberti, Sara Bargiacchi, Giorgia Mancano, Giovanna Traficante, Mafalda Mucciolo, Francesca Clementina Radio, Viviana Cordeddu, Cecilia Mancini, Irene Bottillo, Federica Anna Pirro, Maria Teresa Bonati, Cord‐Christian Becker, Diana Carli, Alessandro Mussa, Maria Isis Atallah Gonzalez, Inge Lore Ruiz‐Arana, Camille Kumps, Isabelle Maystadt, Stephanie Moortgat, Alp Peker, Maria Piccione, Paola Grammatico, Nino Rostomashvili, Jonathan Lévy, Marcello Scala, Valeria Capra, Annalaura Torella, Clare van Eyk, Bertrand Isidor, Benjamin Cogne, Siddharth Srivastava, Aisling Quinlan, Alessandro Vaisfeld, Laura Licchetta, Daniele Frattini, Claudio Graziano, Giulia Severi, Isabelle Bacchi, Luca Soliani, Elliott H. Sherr, Emanuela Argilli, Himanshu Goel, Chiara De Luca, Silvia Leonardi, Francesco Brancati, Flavio Faletra, Catia Mio, Silvia Braibanti, Giancarlo Gargano, Carlo Fusco, Antonio Novelli, Marco Tartaglia, Livia Garavelli   +57 more
wiley   +1 more source

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis

Journal of Diabetes Investigation, Volume 16, Issue 8, Page 1526-1534, August 2025.
We present a report on SHORT syndrome caused by PIK3R1 mutations, including findings from in silico analysis. Our results demonstrate that these mutations impair the ability of p85α to interact with phosphopeptides. ABSTRACT Aims/Introduction Phosphatidylinositol 3‐kinase (PI3K) plays a key role in insulin signaling, and mutations in PIK3R1, which ...
Tomofumi Takayoshi, Yushi Hirota, Aki Sugano, Kenji Sugawara, Takehito Takeuchi, Mika Ohta, Kai Yoshimura, Seiji Nishikage, Akane Yamamoto, Yu Mimura, Shinji Higuchi, Jun Mori, Rie Kawakita, Tohru Yorifuji, Yutaka Takaoka, Wataru Ogawa   +15 more
wiley   +1 more source

Easily missed?: femoral hernias [PDF]

, 2011
Kidd, G.A., O'Dwyer, P.J., Whalen, H.R.
core   +1 more source

A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes

Journal of Diabetes Investigation, Volume 16, Issue 8, Page 1561-1565, August 2025.
We report a case of SHORT syndrome caused by a novel PIK3R1 mutation. The diagnosis of SHORT syndrome was made based on typical clinical features suggestive of the syndrome. ABSTRACT A 33‐year‐old man presented with short stature, thin build, hearing impairment, Rieger anomaly, and a history of inguinal hernia.
Kumiko Tajima, Yushi Hirota, Tomofumi Takayoshi, Wataru Ogawa   +3 more
wiley   +1 more source

A tailored approach for the treatment of indirect inguinal hernia in adults—an old problem revisited [PDF]

, 2018
Purpose: A patent processus vaginalis peritonei (PPV) presents typically as an indirect hernia with an intact inguinal canal floor during childhood. Little is known however about PPV in adults and its best treatment.
Demartines, Nicolas, Hübner, Martin, Raiss, Hicham, Schäfer, Markus, Vuilleumier, Henri   +4 more
core