Results 211 to 220 of about 34,364 (292)

Breed-Specific Dental Variations in Dogs Assessing Malocclusions Using Computed Tomography (CT). [PDF]

Vet Sci
Habib H, Soothar M, Pan X, Ding M, Zheng C, Zhang M, Zhou Z.   +6 more
europepmc   +1 more source

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1465-1478, July 2026.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Outcomes of Bonebridge Implantation in 10 Patients with Rare Genetic Syndromes and Difficult Anatomy. [PDF]

J Clin Med
Cywka KB, Skarzynski PH, Czaplicka EA, Skarzynski H.   +3 more
europepmc   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Skull Base Surgery in the Pediatric Population—The 2nd International Collaborative Study (1995–2015)

Head &Neck, Volume 48, Issue 7, Page 1742-1754, July 2026.
ABSTRACT Background The current study presents the efforts of a global collaborative group to review the management and outcomes of malignant tumors of the skull base in the pediatric population worldwide. Patients and Methods A total of 28 institutions contributed data on 3061 patients. From this, there were 64 pediatric patients (2.1%).
Dan M. Fliss, Omer J. Ungar, Helena Levyn, Cristina Valero, Dauren Adilbay, Alana Eagan, Junting Zheng, Mithat Gonen, Marc A. Cohen, Snehal Patel, Ian Ganly, Prathamesh Pai, Paolo Castelnuovo, Fang Ju Gao, Cesare Piazza, Piero Nicolai, Benedict J. Panizza, James Bowman, Catherine Barnett, Luiz P. Kowalski, Ronaldo N. Toledo, John DeAlmeida, Ian Witterick, Philippe Herman, Walter Fontanella, Gregorio Sanchez Aniceto, Sefik Hosal, Serdar Ozer, Subramania Iyer, Richard Harvey, C. Rene Leemans, Jan‑Jaap Hendrickx, Marcelo Figari, Luis Boccalatte, Ichi Nibu, Peter Clarke, Catherine Rennie, Yiming Zhu, Claudio Cernea, Sergio Goncalves, Rodney Schlosser, Fernando Dias, Zoukaa Sargi, Shahzada Ahmed, Wojciech Golusinski, Se Heon Kim, Shirley Y. Su, Shaan M. Raza, Franco DeMonte, Ehab Hanna, Jatin P. Shah   +50 more
wiley   +1 more source

Gene expression dynamics of human and mouse craniofacial development at the single-cell level. [PDF]

Nat Commun
Khouri-Farah N, Manchel A, Wentworth Winchester E, Schilder BM, Robinson K, Curtis SW, Skene NG, Leslie-Clarkson EJ, Cotney J.   +8 more
europepmc   +1 more source

Current Evidence of the Effect of Breastfeeding on Ear Molding Outcomes: A Scoping Review

The Laryngoscope, Volume 136, Issue 7, Page 2868-2875, July 2026.
ABSTRACT Objective To provide an overview on auricular molding and to investigate whether breastfeeding is associated with greater cartilage malleability or improved perinatal auricular molding outcomes. Data Sources Embase, MEDLINE, and CENTRAL databases.
Harry Chiang, Samuel R. Shing, Peggy Su‐Genyk, Lilun Li, Kelvin Kwong, Joseph B. Vella   +5 more
wiley   +1 more source

Prenatal ultrasound manifestations and classification of 37 fetuses with limb-body wall complex: a retrospective study. [PDF]

Front Med (Lausanne)
Wu X, Li K, Wang R, Zhang P, Ouyang Y, Dai Q, Zhang Y, Meng H.   +7 more
europepmc   +1 more source