Results 71 to 80 of about 2,034 (157)

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

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. [PDF]

, 2015
Alström syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal ...
Üstün, İhsan,, Üstün, İhsan, Cayir, Atilla, Özdemir, Taha Reşid,, ATABEK, MEHMET EMRE, Taha Reşid Özdemir, Jan D Marshall, Karaca, Ender,, Möller, Claes, İlhan Satman, Karaca, Emin,, Atabek M.E., Naggert, Juergen K., İlknur Erol, Ataman, Esra,, Pariltay E., İhsan Üstün, Üstün I., Erhan Parıltay, Elçioğlu, Nursel, Marshall R.P., Selma Düzenli, Ozantürk, Ayşegül,, Şükrü Öztürk, Çayir A., Muller, J,, Yılmaz-Güleç, Elif, Marshall J.D., Satman, I,, Özgül, Rıza Köksal, Karaca, Ender, Candan, Şükrü, Eroʇlu, Fehime Kara, Düzenli, Selma, Eroğlu, Fehime Kara,, Erol, İlknur,, Collin G.B., Muller, Jean, Tos, Tülay,, Öztürk, Şükrü,, Eroğlu, Fehime Kara, Atabek, M Emre, Ero?lu F.K., Naggert J.K., Elçio?lu N., Düzenli, Selma,, Claes Möller, Candan, Şükrü,, İhsan Esen, Çayır, Atilla,, Atabek, M. Emre, Candan Ş., Fehime Kara Eroğlu, Tos, Tülay, Muller J., Naggert, Jürgen K, Öztürk, Şükrü, Erol, İlknur, Elcioglu, N,, Özdemir T.R., Ozantürk, Ayşegül, Karaca E., Torun, Deniz,, Parıltay, Erhan,, Satman I., Torun, Deniz, Möller C., Torun D., Atilla Çayır, Naggert, Juergen K, Erol I., Esra Ataman, Esen, İhsan, Taşkesen, Mustafa, Elif Yılmaz-Güleç, Marshall, Robert P,, Marshall, Robert P., Robert P Marshall, Elçioʇlu, Nursel, Naggert, JK,, Şükrü Candan, Taşkesen M., Özdemir, Taha Reşid, Yilmaz-Gülec, Elif,, Ozgül, RK,, Öztürk Ş., Yilmaz-Güleç E., Parıltay, Erhan, Esen I., Collin, Gayle B, Esen, İhsan,, Ozantürk A., Marshall, Jan D,, Çayır, Atilla, Jürgen K Naggert, Ayşegül Ozantürk, Marshall, Jan D., Ozgul, Riza Koksal, Ender Karaca, Nursel Elçioğlu, Ataman E., M Emre Atabek, Jean Muller, ELÇİOĞLU, HURİYE NURSEL, Özgül R.K., Mustafa Taşkesen, Emin Karaca, Möller, Claes,, Marshall, Robert P, Atabek, ME,, Düzenli S., Tülay Tos, Taşkesen, Mustafa,, Tos T., Gayle B Collin, Satman, İlhan, Deniz Torun, Rıza Köksal Özgül, Pariltay, Erhan, Yilmaz-Gulec, Elif, Ataman, Esra, Collin, Gayle B,, Collin, Gayle B., Karaca, Emin   +123 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

A CASE OF ALSTRÖM SYNDROME WITH A NOVEL VARIANT IN ALMS1 GENE PRESENTING WITH CONE ROD DYSTROPHY AS FIRST FINDING. [PDF]

Purpose:Alström syndrome is a rare autosomal recessive monogenic ciliopathy, which is caused by a mutation of the Alström syndrome 1 gene. It is a multisystemic disorder characterized by insulin resistance, childhood obesity, cardiomyopathy, progressive ...
Afrashi, Filiz, Onay, Huseyin, Goksen, Damla, Önay, Hüseyin Hamza, Ciftci, Mukaddes Damla, Yen, Büşra   +5 more
core   +1 more source

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome [PDF]

, 2020
Alström syndrome (AS) is a monogenic syndromic ciliopathy caused by mutations in the ALMS1 (Alström Syndrome 1) gene. A total of 21 subjects with AS from 20 unrelated Chinese families were recruited. Our cohort consists of 9 females and 12 males, between
CHAU, JFT, Rethanavelu, K, Luk, HM, Fung, JLF, Mak, CCY, CHUNG, CCY, Chung, BHY, Pei, SLC   +7 more
core   +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

Cardiac electrical system involvement in Alström syndrome: uncommon causes of dilated cardiomyopathies

Cardiogenetics, 2012
Alström syndrome is a rare autosomal recessive disorder with dilated cardiomyopathy in 60% of patients. Despite the frequency of cardiac involvement in Alström syndrome, conduction system abnormalities or arrhythmias have not been characterized
Richard J. Czosek, Paula Goldenberg, Erin M. Miller, Robert Spicer, Jeffrey A. Towbin, Stephanie M. Ware   +5 more
doaj   +1 more source

A very early diagnosis of Alstrӧm syndrome by next generation sequencing

BMC Medical Genetics, 2020
Background Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesity, insulin ...
Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli   +12 more
doaj   +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

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

Human Genome Variation, 2021
Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs ...
Natarajan N. Srikrupa, Sarangapani Sripriya, Suriyanarayanan Pavithra, Parveen Sen, Ravi Gupta, Sinnakaruppan Mathavan   +5 more
doaj   +1 more source