Results 61 to 70 of about 2,857 (146)

Early diagnosis of Bardet-Biedl syndrome associated with obesity

Ожирение и метаболизм, 2008
One of the urgent problems of modern health care is the increase in the prevalence of obesity among children and adolescents. Late diagnosis and delayed initiation of treatment lead to serious complications such as hypertension, type 2 diabetes mellitus.

doaj   +1 more source

Six Years of Genetic Diagnosis of Severe Early‐Onset Obesity in a French Cohort

Obesity Science &Practice, Volume 11, Issue 6, December 2025.
ABSTRACT Objective Obesity is a multifactorial disease with a strong genetic component. It is imperative to enhance the identification of genetic variations in their early and severe manifestations in order to facilitate the development of personalized therapeutic strategies, informed clinical care, and the facilitation of genetic counseling.
M. Rama, E. Blond, A. Janin, M. Di‐Filippo, C. Cuerq, O. Marmontel, P. A. Rollat‐Farnier, E. Dieterlen, B. Segrestin, M. Nicolino, E. Disse, K. Perge, D. Collin‐Chavagnac   +12 more
wiley   +1 more source

MORFAN syndrome: A rarity but a reality!

Indian Journal of Dermatology, 2019
Acanthosis nigricans (AN) describes clinically hyperpigmented skin, which most commonly affects the flexural areas such as axilla, groin and neck.
Gourab Roy, Sumit Sen, Shreya Poddar
doaj   +1 more source

Consensus clinical management guidelines for Alström syndrome

Orphanet Journal of Rare Diseases, 2020
Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13.
Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay-Aygun, Francesca Dassie, Vincent Marion, Marina Valenti, Kerry Leeson-Beevers, Ann Chivers, Richard Steeds, Timothy Barrett, Tarekegn Geberhiwot   +22 more
doaj   +1 more source

Derivation of cochlear cells from pathological or isogenic human iPSCs for modeling hereditary hearing loss [PDF]

, 2016
Alström Syndrome (AS) is a human autosomal recessive genetic disorder characterized by numerous clinical symptoms including deafness. AS is caused by mutations in the ALMS1 gene encoding for ALMS1 protein expressed at the basal body and implicated in ...
Czajkowski, Amandine, Delacroix, Laurence, Grobarczyk, Benjamin, Hanon, Kevin, LEFEBVRE, Philippe, Malgrange, Brigitte   +5 more
core  

Launching PCORnet, a national patient-centered clinical research network [PDF]

, 2014
The Patient-Centered Outcomes Research Institute (PCORI) has launched PCORnet, a major initiative to support an effective, sustainable national research infrastructure that will advance the use of electronic health data in comparative effectiveness ...
Brown, Jeffrey S, Califf, Robert M, Curtis, Lesley H, Fleurence, Rachael L, Platt, Richard, Selby, Joe V   +5 more
core   +1 more source

Exploring Contraindicated Medications and Corresponding Targeted Genes for Migraine Through Integrated Genetic Approaches

Brain and Behavior, Volume 15, Issue 11, November 2025.
To systematically identify risk medications for migraine and its subtypes, we integrated GWAS data for 23 medications with GWASs of migraine and its subtypes to conduct causal inference. We then combined plasma eQTLs with drug‐target databases to map putative targets of the risk medications and validated causal relationships using colocalization and ...
Nan Wang, Weixuan Liang, Zhuofeng Wen, Wanzhe Liao, Zhixin Xie, Zhiyi Zhou, Ziyang Yang, Xitong Ju, Haobin Zhou, Chuiguo Huang   +9 more
wiley   +1 more source

Integrative taxonomy of the Ceratozamia mexicana Brongn. (Zamiaceae) species complex from a phylogeographic perspective

Plant Species Biology, Volume 40, Issue 6, Page 530-546, November 2025.
Recent research has ignited a renewed interest in Ceratozamia cycads, unveiling their remarkable diversity. While previous studies primarily focused on morphology, this investigation employs a multidisciplinary approach, integrating phylogenetics, morphology, and ecological niches. Our methods identify seven distinct lineages as separate species.
Anwar Medina‐Villarreal, Jorge González‐Astorga, Alejandro Espinosa de los Monteros   +2 more
wiley   +1 more source

Abnormalities in enamel structure and their association with systemic diseases and syndromes [PDF]

, 2011
Etiology of abnormalities in tooth structure has been subject of numerous studies but still has not been fully understood. Heredity is an established etiological factor for many types of structural anomalies of the teeth. Factors that cause changes in
Babić Marko, Jeremić Marko, Jokanović Vukoman, Marković Dejan, Vuković Ana   +4 more
core   +1 more source

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 more
wiley   +1 more source