Results 101 to 110 of about 19,360 (251)

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies [PDF]

, 2018
Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by ...
Barbato, Ersilia, Caputo, Viviana, Ciolfi, Andrea, Di Giorgio, Roberto, Genovesi, Maria Luce, Giovannetti, Agnese, Guarnieri, Rosanna, Magliozzi, Maria Rosa, Paolacci, Stefano, Pizzi, Simone, Pizzuti, Antonio, Tartaglia, Marco, Traversa, Alice   +12 more
core   +1 more source

Hypohidrotic ectodermal dysplasia with anodontia: A rare case-rehabilitation by prosthetic management

Journal of Indian Academy of Oral Medicine and Radiology, 2012
Ectodermal dysplasia is a hereditary disorder characterized by developmental dystrophies of ectodermal derivatives- It is characterized by triad of signs comprising sparse hair, abnormal or missing teeth and inability to sweat.
M Naveen Kumar, P Srinivas, S Ramadevi, S Raghavendra Prasad, P Ajayprakash, M Sudhakar   +5 more
doaj   +1 more source

Síndrome poliglandular autoimune tipo 1: descrição de caso e revisão da literatura [PDF]

, 2012
Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which
Dias-da-Silva, Magnus Régios, Lazaretti-Castro, Marise, Weiler, Fernanda Guimarães   +2 more
core   +2 more sources

Hereditary Ectodermal Dysplasia in Two Identical Siblings

Acta Medica Bulgarica
Primary defects in two or more ectodermally-derived tissues during embryonic development characterize ectodermal dysplasia, a vast, varied group of inherited illnesses. Skin, hair, nails, eccrine glands, and teeth are the primary tissues affected.
Sarkar A. S., Rao K., Ajila V.
doaj   +1 more source

Nasal Myiasis in a Female with Christ–Siemens–Touraine Syndrome: A Case Report

Journal of Nepal Medical Association
Ectodermal dysplasia is a rare disease that belongs to a diverse group of inherited monogenic disorders involving defects in one or more ectodermally or mesodermally derived tissues.
Leison Maharjan, Anju Shah, Dhirendra Yadav, Namita Shrestha   +3 more
doaj   +1 more source

FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. [PDF]

, 2017
Chondrodystrophy in dogs is defined by dysplastic, shortened long bones and premature degeneration and calcification of intervertebral discs. Independent genome-wide association analyses for skeletal dysplasia (short limbs) within a single breed ...
Aguilar, Miriam, Bannasch, Danika L, Brown, C Titus, Brown, Emily A, Dickinson, Peter J, Ettinger, Cassandra L, Korff, Courtney, Lind, Jenna, Mansour, Tamer, Pollard, Rachel, Raudsepp, Terje, Sturges, Beverly K, Varon, Samuel, Young, Amy E   +13 more
core   +2 more sources

Mechanisms and molecular regulation of mammalian tooth replacement [PDF]

, 2008
In most non-mammalian vertebrates, such as fish and reptiles, teeth are replaced continuously. However, tooth replacement in most mammals, including human, takes place only once and further renewal is apparently inhibited.
Järvinen, Elina
core  

Hypohydrotic ectodermal dysplasia: a case report [PDF]

, 2018
M. M. Aarif Syed, Bibush Amatya, Shagufta Parween   +2 more
openalex   +1 more source

Ectodermal Dysplasia Associated with Sickle Cell Disease

Case Reports in Dentistry, 2014
Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow.
Luiz Evaristo Ricci Volpato, Maria Carmen Palma Faria Volpato, Artur Aburad de Carvalhosa, Vinicius Canavarros Palma, Álvaro Henrique Borges   +4 more
doaj   +1 more source

Prosthodontic treatment of patients with ectodermal dysplasia [PDF]

, 2012
Heiner Weber
openalex   +1 more source