Results 281 to 290 of about 245,076 (385)

Parachute Technique: A New Endoscopic Method for Closing Recurrent Oronasal Fistulas in Cleft Palate Patients. [PDF]

J Clin Med
Zwierz A, Komisarek O, Burduk P.
europepmc   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, EarlyView.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Measuring pragmatic skills of children from specific target groups: use of the EPVs [PDF]

, 2012
Cocquyt, Mie, Derwart, Hazel, Mommaerts, Maurice, Nadjmi, Nasser, Zink, Inge   +4 more
core  

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

Taurodontism, Root Dilaceration, and Tooth Transposition: A Radiographic Study of a Population with Nonsyndromic Cleft Lip and/or Palate

, 2015
Giovana Maria Weckwerth, Carlos Ferreira Santos, Daniel Brozoski, Bruna Stuchi Centurion, Otávio Pagin, José Roberto Pereira Lauris, Izabel Maria Marchi de Carvalho, Lucimara Teixeira das Neves   +7 more
openalex   +1 more source

Appropriate Characteristics for Cleft Palate Surgery by Chief Residency in Plastic Surgery Training Programs. [PDF]

Plast Reconstr Surg Glob Open
Thanapaisal C, Punyavong P, Jenwitheesuk K, Surakunprapha P, Winaikosol K.   +4 more
europepmc   +1 more source

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

Cleft lip and palate assessment form: Medical history, oral-peripheral characteristics, speech problems

, 2018
Özlem Ünal–Logacev, Deniz Kazanoglu, Eren Balo, Ayse Nemutlu   +3 more
openalex   +1 more source

A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome. [PDF]

Clin Pract
Nestler U, Gräfe D, Strehlow V, Jauss RT, Merkenschlager A, Schönfeld A, Wilhelmy F.   +6 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