Results 71 to 80 of about 85,361 (267)

Mapping Dental Care for Children and Adolescents With Rare Diseases: A Brazilian Multicentre Study

Community Dentistry and Oral Epidemiology, EarlyView.
ABSTRACT Objectives To describe the landscape of dental care provided by specialised centres for children and adolescents with rare diseases (RDs) in the state of Minas Gerais, southeastern Brazil. Methods A retrospective cross‐sectional study was conducted involving individuals aged 0–18 years with a confirmed diagnosis of a RD who received care at ...
Heloisa Vieira Prado, Rayssa Maria Soalheiro de Souza, Gabriella Guerra Freire Gabrich Fonseca, Kamila Rodrigues Junqueira Carvalho, Anna Vitória Mendes Viana Silva, Iasmin Fonseca Tolentino Mascarenhas, Beatriz Rezende Bergo, Hanna Larissa Barbosa Soares, Bárbara Mendes de Jesus, Layanne Ribeiro Ferreira e Sobral, Kélisson Duarte Reis, Késia Lara dos Santos Marques, Fabiana Sodré de Oliveira, Daniella Reis Barbosa Martelli, José Alcides Almeida de Arruda, Benjamin P. J. Fournier, Denise Vieira Travassos, Soraia Macari, Célia Regina Moreira Lanza, Ana Cristina Borges‐Oliveira, Hercílio Martelli‐Júnior, Tarcília Aparecida Silva   +21 more
wiley   +1 more source

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts

Cell Proliferation, EarlyView.
FAM20A variants cause AI1G, marked by enamel defects, gingival overgrowth and ectopic calcifications. RNA sequencing of patient‐derived gingival fibroblasts showed dysregulated genes in adhesion, proliferation and signalling pathways. Functional assays revealed increased cell proliferation, impaired ECM interactions and osteogenesis, suggesting FAM20A ...
Kanokwan Sriwattanapong, Sermporn Thaweesapphithak, Chompak Khamwachirapitak, Pannagorn Sae‐ear, Sasiprapa Prommanee, Noppadol Sa‐Ard‐Iam, Suphalak Phothichailert, Han Sung Jung, Vorasuk Shotelersuk, Thantrira Porntaveetus   +9 more
wiley   +1 more source

Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients

Haematologica, 2019
Fanconi anemia is a rare recessive disease characterized by multiple congenital abnormalities, progressive bone marrow failure, and a predisposition to malignancies. It results from mutations in one of the 22 known FANC genes.
Minako Mori, Asuka Hira, Kenichi Yoshida, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Michiko Anmae, Jun Yasuda, Shu Tadaka, Kengo Kinoshita, Tomoo Osumi, Yasushi Noguchi, Souichi Adachi, Ryoji Kobayashi, Hiroshi Kawabata, Kohsuke Imai, Tomohiro Morio, Kazuo Tamura, Akifumi Takaori-Kondo, Masayuki Yamamoto, Satoru Miyano, Seiji Kojima, Etsuro Ito, Seishi Ogawa, Keitaro Matsuo, Hiromasa Yabe, Miharu Yabe, Minoru Takata   +27 more
doaj   +1 more source

Pyoderma gangrenosum: a presenting sign of myelodysplastic syndrome in undiagnosed Fanconi anemia [PDF]

, 2019
A 26-year-old man with a history of congenital bilateral microtia, unilateral renal agenesis, left aural atresia, and right external auditory canal occlusion admitted for right rib cartilage graft harvest and left ear re-construction.
Kandula, Prasanthi, Le, Cuong, Shah, Kishan M., Wolverton, Jay E., Wolverton, Stephen E.   +4 more
core  

MHF1–2/CENP-S-X performs distinct roles in centromere metabolism and genetic recombination [PDF]

, 2013
Peer reviewedPublisher ...
Bhattacharjee, Sonali, Bryer, Claire, Feeney, Laura, Lorenz, Alexander, Osman, Fekret, Whitby, Matthew C.   +5 more
core   +1 more source

Factors Affecting Immune Reconstitution Post‐Allogeneic HSCT in Children: The Case for an Individualized Approach to Vaccination

European Journal of Haematology, EarlyView.
ABSTRACT Allogeneic hematopoietic stem cell transplantation (HSCT) is increasingly used to treat malignant and non‐malignant diseases. Following allogeneic HSCT, patients are particularly vulnerable to vaccine‐preventable diseases (VPD) because conditioning depletes immune cells, including memory cells.
Hélène Buvelot, Frederic Baleydier, Laure Pittet, Geraldine Blanchard‐Rohner   +3 more
wiley   +1 more source

Iatrogenic chimerism in a patient with Fanconi anemia and delayed puberty

Гинекология, 2020
The article presents a clinical case of delayed puberty in a 13-year-old girl with Fanconi anemia who was sent to the Department of gynecology of children and adolescents for removal of the sexual glands due to the detection of a Y-chromosome in the ...
Zaira Kh. Kumykova, Irina A. Kiseleva, Zalina K. Batyrova, Olga A. Buyanovskaya   +3 more
doaj   +1 more source

Avenços en el diagnòstic de l'anèmia de Fanconi [PDF]

, 2011
L'anèmia de Fanconi es una malaltia poc freqüent que provoca anèmia progressiva i predisposició al càncer. Actualment, el seu diagnòstic, basat en un test de fragilitat cromosòmica, no és precís.
Surrallés i Calonge, Jordi
core   +1 more source

Aplasias Medulares Congénitas [PDF]

, 2010
Las aplasias medulares congénitas constituyen un grupo heterogéneo de enfermedades que se caracterizan por insuficiencia medular, asociadas frecuentemente a una o más anomalías somáticas y con riesgo elevado de neoplasias.Son enfermedades raras ...
Almeida, T, Esteves, A, Freitas, O, Rosado, L   +3 more
core   +1 more source

Genetic risk factor identification for common epilepsies guided by integrative omics data analysis

Epilepsia, EarlyView.
Abstract Objective Genetic generalized epilepsies (GGEs) comprise the most common genetically determined epilepsy syndromes, following a complex mode of inheritance. Although many important common and rare genetic factors causing or contributing to these epilepsies have been identified in the past decades, many features of the genetic architecture are ...
Ashwini Mushunuri, Oluyomi Adesoji, Roland Krause, Patrick May, Holger Lerche, Albert Becker, Daniela Grimm, International League Against Epilepsy Consortium on Complex Epilepsies, Michael Nothnagel, Herbert Schulz   +9 more
wiley   +1 more source