Results 81 to 90 of about 1,912 (196)
[Alstrom syndrome: clinical and genetic features, and a diagnostic guide to foresee complications.] [PDF]
, 2008 BACKGROUND AND OBJECTIVE: Alstrom syndrome is a progressive autosomal recessive genetic disorder affecting multiple organ systems. It may be detected at birth or in early childhood. Clinically, patients with Alstrom syndrome develop cone-rod dystrophy
Martinez, Frias M +5 more
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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 +9 more
wiley +1 more source
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 +5 more
doaj +1 more source
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 +2 more
wiley +1 more source
Homozygosity mapping at Alstrom syndrome to chromosome 2p. [PDF]
, 1997 Alstrom syndrome is a rare autosomal recessive disorder characterized by pigmentary retinal degeneration, sensorineural hearing loss, childhood obesity, non-insulin-dependent diabetes mellitus, hyperlipidemia and chronic nephropathy.
Marshall, J D +3 more
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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 +7 more
wiley +1 more source
Alms1-disrupted mice recapitulate human Alstrom syndrome. [PDF]
, 2005 Mutations in the human ALMS1 gene cause Alstrom syndrome (AS), a progressive disease characterized by neurosensory deficits and by metabolic defects including childhood obesity, hyperinsulinemia and Type 2 diabetes.
Hicks, W +10 more
core +1 more source
Mouse models of ciliopathies: the state of the art
Disease Models & Mechanisms, 2012 The ciliopathies are an apparently disparate group of human diseases that all result from defects in the formation and/or function of cilia. They include disorders such as Meckel-Grüber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS)
Dominic P. Norris, Daniel T. Grimes
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 +19 more
wiley +1 more source
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. [PDF]
, 2002 Alstrom syndrome is a homogeneous autosomal recessive disorder that is characterized by childhood obesity associated with hyperinsulinemia, chronic hyperglycemia and neurosensory deficits.
Maffei, P +11 more
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