Results 91 to 100 of about 4,786 (283)
Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes
Genes, Chromosomes and Cancer, Volume 63, Issue 8, August 2024.ABSTRACT A substantial number of hereditary colorectal cancer (CRC) and colonic polyposis cannot be explained by alteration in confirmed predisposition genes, such as mismatch repair (MMR) genes, APC and MUTYH. Recently, a certain number of potential predisposition genes have been suggested, involving each a small number of cases reported so far. Here,
Ahmed Bouras +11 more
wiley +1 more source
Hypohidrotic Ectodermal Dysplasia [PDF]
Journal of Clinical and Diagnostic Research, 2021 Chiranjit Ghosh +2 more
doaj +1 more source
Bilateral Anterior Shoulder Dislocation [PDF]
, 2014 Introduction: Unilateral anterior shoulder dislocation is one of the most common problems encountered in orthopedic practice. However, simultaneous bilateral anterior dislocation of the shoulders is quite rare. Case Presentation: We report a case of a
Lui, T. H., Siu, Y. C.
core +1 more source
CATSHL syndrome, a new family and phenotypic expansion
Clinical Genetics, Volume 105, Issue 3, Page 313-316, March 2024.A novel heterozygous variant of FGFR3 was identified in 2 members of the same family affected by CAmptodactyly – Tall stature – Scoliosis – Hearing Loss (CATSHL) syndrome with some shared features with Lacrimo – Auricolo – Dento – Digital (LADD) syndrome. LADD and CATSHL syndromes could be further evidences of high pleiotropy of FGFR3.
Silvia Cannova +8 more
wiley +1 more source
, 2017 The oral cavity is the first component of the digestive tract, which is delimited by the lips anteriorly and the oropharynx posteriorly. The oral cavity functions as a protective barrier and is an essential component for speech and swallowing ...
Burgess, Jeff +6 more
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Molecular Genetics &Genomic Medicine, Volume 12, Issue 1, January 2024.We ascertained three new MSX1 variants in three unrelated Chinese non‐syndromic oligodontia (NSO) families: one insertion variant (c.576_577insTAG (p. Gln193 *)) and two missense variants (c.871T>C (p.Tyr291His); c.644A>C (p.Gln215Pro)). Immunofluorescence analysis revealed that truncated MSX1 (p. Gln193*) localized in the cytoplasm.
Ya Zhao +6 more
wiley +1 more source
Auto-percepção dos portadores de Amelogênese Imperfeita e Displasia [PDF]
, 2012 TCC (graduação) - Universidade Federal de Santa Catarina. Centro de Ciências da Saúde. Odontologia.A Amelogênese Imperfeita é um distúrbio hereditário caracterizado pela formação anormal de esmalte, o que gera dentes com alteração de cor, sensibilidade e
Klita, Ana Paula Haisi
core
Journal of Dentomaxillofacial Science, 2018 Objective: The success of rehabilitation patients depends on strategic treatment planning and choice of most suitable treatment modality. In this case, a 20 years male, reported both the maxillary central incisors were found to be fractured, 1/3 and 2/3 ...
I. D. Habar +5 more
semanticscholar +1 more source
Special Care in Dentistry, Volume 44, Issue 1, Page 96-102, January/February 2024.Abstract Aim Ectrodactyly‐ectodermal dysplasia‐cleft lip/palate (EEC) syndrome is a rare genetic disorder that affects ectodermal derived structures, including teeth, nails, hair, and sweat glands. Prosthetic rehabilitation of patients with EEC syndrome is essential towards improving their overall quality of life. Methods and Results In the case shown,
Gréta Török +6 more
wiley +1 more source
Displasia Ektodermal Hipohidrotik
Sari Pediatri, 2016 Seorang bayi laki-laki berusia 4 bulan menderita displasia ektodermal hipohidrotik (DEH), merupakan kelainan genetik yang sebagian besar diturunkan secara x-linked recessive.
Eveline PN +2 more
doaj +1 more source