Results 71 to 80 of about 1,372 (198)

Você conhece esta síndrome? Do you know this syndrome?

Anais Brasileiros de Dermatologia, 2007
A síndrome oculoauriculovertebral, mais comumente conhecida como síndrome de Goldenhar, pode ser diagnosticada pelo dermatologista. Achados como hipoplasia/aplasia de pavilhão auricular e alterações vertebrais, e a presença de trago acessório encontrados
Maurício Pedreira Paixão, Hélio Amante Miot   +1 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

SOCIAL DISCRIMINATION AS PART OF THE PROCESS OF FORMING THE MAIN CHARACTER’S SOCIAL IDENTITY IN THE NOVEL WONDER BY R.J. PALACIO [PDF]

, 2020
Social discrimination is one of the problems that arises in the community from time to time. This study aims to describe the problem of social discrimination which is part of the process of forming social identity of the main character in the novel ...
Rananda, Meilyana Indi, Setyowati H, Agnes, Widisanti, Ni Made   +2 more
core   +2 more sources

Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1 Duplications

Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.
ABSTRACT Background Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype. The syndrome is characterized by phenotypic polymorphism and reduced penetrance. Methods Patients were investigated by performing a cytogenetic analysis of GTG‐banded metaphases, aCGH with ...
A. A. Kashevarova, M. E. Lopatkina, O. Yu. Vasilyeva, D. A. Fedotov, A. D. Lobanov, E. A. Fonova, I. Z. Zhalsanova, A. A. Zarubin, O. A. Salyukova, E. O. Belyaeva, V. V. Petrova, E. G. Ravzhaeva, A. A. Agafonova, A. D. Cheremnykh, N. B. Torkhova, S. L. Vovk, I. N. Lebedev   +16 more
wiley   +1 more source

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

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

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

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

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  

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