Results 81 to 90 of about 2,862 (212)

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

Novel Unreported Variants in Alstrom Syndrome 1 Gene Causing Alstrom Syndrome

Journal of Ophthalmological Society of West Bengal
Abstract We report a case of Alstrom Syndrome (ALMS) due to mutation in ALMS1 and EYS gene caused by an unreported variant. The case revealed a heterozygous variant c.3298del on exon8 and c.11250del on exon16 of the ALMS1 gene. It is a rare syndrome that has a variable presentation, and discovering new variants can help in better ...
Sarang Nikhil Gokhale, Puja Chowdhury, Bhagyashree Verma, Aarzoo Juneja, Ahana Sen, Rupak Roy   +5 more
openaire   +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  

Cep70 and Cep131 contribute to ciliogenesis in zebrafish embryos. [PDF]

, 2009
BACKGROUND: The centrosome is the cell's microtubule organising centre, an organelle with important roles in cell division, migration and polarity. However, cells can divide and flies can, for a large part of development, develop without them.
Carl, Matthias, Harris, William A, Wilkinson, Christopher J   +2 more
core   +3 more sources

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

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

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

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

IMPROVE 2023: The 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence

Clinical Obesity, Volume 15, Issue 5, October 2025.
ABSTRACT A total of 150 clinicians and researchers representing 19 countries came together in person and online to participate in the highly anticipated 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE), held on 13–15 December 2023 in Paris, France.
Karine Clément, Erica L. T. van den Akker, Jesús Argente, Phil Beales, Metin Cetiner, Béatrice Dubern, Sadaf Farooqi, Aurélie Gouronc, Peter Kühnen, Johanne Le Beyec, Louis Lebreton, David Meeker, Hermann L. Müller, Jean Muller, Christine Poitou, Patrick Sleiman, Christian Vaisse, Martin Wabitsch, Jacques Young, Hélène Dollfus   +19 more
wiley   +1 more source

Liver fat in adults with GH deficiency: comparison to matched controls and the effect of GH replacement [PDF]

, 2016
CONTEXT: Existing data regarding the association between growth hormone deficiency (GHD) and liver fat content are conflicting. OBJECTIVE: We aimed i) to assess intrahepatocellular lipid (IHCL) content in hypopituitary adults with GHD compared to matched
Bell, J.D., Bell, J.D., Cox, J., Cox, J., Godsland, I.F., Godsland, I.F., Johnston, D.G., Johnston, D.G., Meienberg, F., Meienberg, F., Robinson, S., Robinson, S., Taylor-Robinson, S.D., Taylor-Robinson, S.D., Thomas, E.L., Thomas, E.L., Yee, M., Yee, M.   +17 more
core   +1 more source