Results 71 to 80 of about 1,356 (192)

Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft

Human Mutation, Volume 2025, Issue 1, 2025.
The genetic basis of nonsyndromic orofacial cleft (NsOFC) remains elusive, although associations have been identified with various genetic loci. NsOFC has a less pronounced genetic background than syndromic orofacial cleft (SyOFC), albeit Mendelian inheritance has been identified.
Peyman Ranji, Eleonore Pairet, Raphael Helaers, Pascal Brouillard, Bénédicte Bayet, Alexander Gerdom, Nicole Revencu, Miikka Vikkula, Elfride De Baere   +8 more
wiley   +1 more source

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

Frontiers in Genetics, 2020
BackgroundDefects in the development of the first and second pharyngeal arches and their derivatives result in abnormal formation of the craniofacial complex, consequently giving rise to facial dysostoses (FDs).
Ewelina Bukowska-Olech, Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Grzegorz Koczyk, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer, Aleksander Jamsheer   +12 more
doaj   +1 more source

Repercussões Bucais da Síndrome de Treacher Collins: revisão de literatura [PDF]

, 2018
A Síndrome de Treacher Collins é um distúrbio do desenvolvimento de herança autossômica dominante e expressividade variável que ocorre, devido a um defeito genético com mutações no gene TCOF1, presente no cromossomo 5, que tem 26 éxons e codifica uma ...
Spezzia, Sérgio
core   +2 more sources

Application of Whole‐Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities

Molecular Genetics &Genomic Medicine, Volume 12, Issue 10, October 2024.
An additional 28.9% (43/149) diagnostic yield was increased by WES in the prenatal evaluation of foetuses with any CNS abnormalities anomaly following negative results by karyotyping and chromosome array. WES may also be of benefit for foetuses with isolated CNS anomalies.
Caiqun Luo, Erya Wen, Yang Liu, Hui Wang, Bei Jia, Liyuan Chen, Xiaoxia Wu, Qian Geng, Huaxuan Wen, Shengli Li, Bingguang Liu, Weiqing Wu, Mei Zhong   +12 more
wiley   +1 more source

Síndrome de Nager [PDF]

, 2016
Las disostosis acrofaciales incluyen un grupo heterogéneo de enfermedades con hipoplasia radial,  denominado como Síndrome de Nager, con una incidencia muy baja no precisada.
Elayne Esther Santana Hernández
core   +1 more source

Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectives

American Journal of Medical Genetics Part A, Volume 194, Issue 3, March 2024.
Abstract Neurodevelopmental disorders exhibit recurrent facial features that can suggest the genetic diagnosis at a glance, but recognizing subtle dysmorphisms is a specialized skill that requires very long training. Face2Gene (FDNA Inc) is an innovative computer‐aided phenotyping tool that analyses patient's portraits and suggests 30 candidate ...
Alessia Carrer, Maria Giovanna Romaniello, Maria Letizia Calderara, Milena Mariani, Andrea Biondi, Angelo Selicorni   +5 more
wiley   +1 more source

Updated EUROCAT guidelines for classification of cases with congenital anomalies

Birth Defects Research, Volume 116, Issue 2, February 2024.
Abstract Background Precise and correct classification of congenital anomalies is important in epidemiological studies, not only to classify according to etiology but also to group similar congenital anomalies together, to create homogeneous subgroups for surveillance and research.
Jorieke E. H. Bergman, Annie Perraud, Ingeborg Barišić, Agnieszka Kinsner‐Ovaskainen, Joan K. Morris, David Tucker, Diana Wellesley, Ester Garne   +7 more
wiley   +1 more source

Prevalence of craniosynostosis in Finland, 1987–2010: A population‐based study

Birth Defects Research, Volume 116, Issue 2, February 2024.
Abstract Background Craniosynostosis is a prevalent craniofacial malformation in Finland; however, comprehensive population‐based epidemiological data are limited. This study aimed to estimate the total and birth prevalence of craniosynostosis in Finland from 1987 to 2010 and examine temporal trends.
Pia Vuola, Niklas Pakkasjärvi, Annukka Ritvanen, Arja Heliövaara, Erkki Tukiainen, Mika Gissler   +5 more
wiley   +1 more source

Treacher Collins Syndrome

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Treacher Collins syndrome is a rare autosomal dominant condition, predominantly affecting the orofacial structures. The incidence varies between 1 in 40,000 to 1 in 70,000 per live births.
Alexander, Peter Sherry
doaj  

As alterações fonoaudiológicas na síndrome de Goldenhar: relato de caso Speech, language and hearing deficits in the Goldenhar syndrome: case report

Revista da Sociedade Brasileira de Fonoaudiologia, 2008
O objetivo do trabalho foi relatar um caso clínico sobre a síndrome de Goldenhar e realizar um levantamento das alterações fonoaudiológicas encontradas no mesmo.
Rafaela Carolina Lopez Silva, Fabiana Faúla da Silva Alves, Sírley Soares Gonzaga Netto, Carla Menezes da Silva   +3 more
doaj   +1 more source