Results 271 to 280 of about 247,308 (380)

Chewing with a cleft palate: a randomized controlled trial. Effect of timing of surgical closure of the palate on mastication in infants with clefts. [PDF]

Clin Oral Investig
Guillaume CHAL, Verhoeven MMR, Eligh AM, Haverkamp SJ, Eijkemans RMJC, Kon M, Mink van der Molen AB, Breugem CC.   +7 more
europepmc   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

Clinical Genetics, EarlyView.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart, Tarik Guzeloglu, Ana R. Soares, Irene Valenzuela, Eduardo F. Tizzano, David Gómez‐Andres, Laurent Pasquier, Marine Legendre, Camille Berges, Julien Thevenon, Marjolaine Gauthier, Caleb Heid, Elly Ranum, Joseph Shen, Michelle Frees, Michael W. Schmidtke, Caro Pilar, Christian P. Schaaf   +17 more
wiley   +1 more source

Mesenchymal stem cells undergoing apoptosis recover cyclophosphamide-induced cleft palate through modulation of NLR signaling mediated pyroptosis. [PDF]

Stem Cell Res Ther
Zheng X, Fu Y, Lu H, Lan L, Geng X, Zhang P, Sui B, Hu X.   +7 more
europepmc   +1 more source

Phonological Process Analysis of Speech of Children with Cleft Palate who Exhibit Palatalized Articulation.

, 1999
Keiko Okazaki, Fumiko Osawa, Masako Kato, Setsuko Imatomi, Fukuko Shusse   +4 more
openalex   +2 more sources

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, EarlyView.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Single cell spatial transcriptomics links Wnt signaling disruption to extracellular matrix development in a cleft palate model. [PDF]

Sci Rep
Piña JO, Raju R, Stipano E, Myo AC, Wang Z, Ono M, Chattaraj P, Furukawa M, D'Souza RN.   +8 more
europepmc   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Longitudinal Speech Changes in Velopharyngeal Function in Submucous Cleft Palate. [PDF]

Otolaryngol Head Neck Surg
Eljamri S, Harley R, Ford M, Jabbour N.
europepmc   +1 more source

THE SPEECH TRAINING OF CLEFT PALATE IN THE POINT OF MOTER ACTION THEORY

, 1978
Kayoko Araragi
openalex   +2 more sources

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

Clinical Genetics, EarlyView.
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