Results 91 to 100 of about 38,765 (271)

Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

Clinical Genetics, EarlyView.
We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti, Sara Terreri, Andrea Del Fattore, Francesca Romana Lepri, Rosario Ruta, Maria Iascone, Laura Pezzoli, Maria Lisa Dentici, Antonio Novelli, Michelina Armando, Daniela Longo, Giuseppe Novelli, Domenico Barbuti, Andrea Bartuli, Ugo Cavallari, Ludovico Graziani, Maria Cristina Digilio, Lorenzo Sinibaldi   +17 more
wiley   +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

Evaluation of Receptive and Expressive Vocabulary in 6-18 Month’s-old Children With Cleft Lip and Palate

Iranian Rehabilitation Journal, 2016
Objectives: One of the factors predicting language impairments is an early limited lexicon in children. An early limited lexicon can also lead to limited performances in other language areas.
Leila Sedaghati, Akbar Darouie, Fatemeh Derakhshande, Mehrdad Memarzade, Behzad Mahaki   +4 more
doaj  

Bone Augmentation of Atrophic Alveolar Ridges Using a Synthetic Bone Substitute With Mesenchymal Stem Cells: A Randomized, Controlled Clinical Trial

Clinical Oral Implants Research, EarlyView.
ABSTRACT Objectives To assess the efficacy and safety of a cell‐based therapy for 3D bone augmentation of severe alveolar bone defects prior to dental implant placement. Materials and Methods A Phase 2 randomized controlled clinical trial evaluated the safety and efficacy of a cell therapy using expanded autologous iliac crest‐derived mesenchymal cells
Mariano Sanz, Cecilie Gjerde, Bjørn Tore Gjertsen, Alberto Ortiz‐Vigón, Nerea Sanchez, Alain Hoornaert, Jordi Caballe‐Serrano, Maria Giralt‐Hernando, Frederick Gaultier, Nicoleta Reinald, Else Marie Pinholt, Markus Rojewski, Helen Rouard, Nathalie Chevallier, Samih Mohamed‐Ahmed, Xieqi Shi, Tie‐Jun Shi, Hubert Schrezenmeier, Pierre Layrolle, Kamal Mustafa   +19 more
wiley   +1 more source

The history and evolution of cleft surgery in India

Indian Journal of Plastic Surgery, 2005
H S Adenwalla, P V Narayanan, C J Rajshree   +2 more
doaj   +1 more source

The causes and natural history of cleft lip and palate [PDF]

, 1968

openalex   +1 more source

Cleft Lip and Cleft Palate

, 2018
Cleft lip and palate are the most common congenital anomaly of the orofacial structures. They are commonly associated with other congenital anomalies like congenital heart disease. Thorough assessment is necessary to exclude other congenital anomalies.
openaire   +2 more sources

Mobility device use in children with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16376 Abstract Aims To quantify the number and types of mobility devices used by children with cerebral palsy (CP) and explore the relationships between Gross Motor Functional Classification System (GMFCS) level, age, insurance, income, and number and types of devices. Method This
Elizabeth Maus, Ben Reader, Jill C. Heathcock   +2 more
wiley   +1 more source

Anaesthesia for Cleft Lip and Palate Operations: A Modification of Orotracheal Connection—Report on 1,500 Patients [PDF]

, 1969
B. C. Guha
openalex   +1 more source

Incidence of developmental disorders and special educational needs and disabilities in children in the UK

Developmental Medicine &Child Neurology, EarlyView.
The incidence of developmental disorders and special educational needs (SEN) provision were investigated, and associations with gestational age and ethnicity were explored, using the Born in Bradford cohort. Birth before full term was associated with increased odds of developmental disorder and/or SEN, which was even demonstrated in early term (37–38 ...
Katherine Pettinger, Sarah Blower, Elaine Boyle, Catherine Hewitt, Lorna Fraser   +4 more
wiley   +1 more source