Results 131 to 140 of about 178,919 (265)

Autosomal dominant [PDF]

, 2020
openaire   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Hyperinsulinism-hyperammonemia syndrome due to an autosomal dominant <i>GLUD1</i> p.Ile497Met mutation. [PDF]

JCEM Case Rep
Anvaripour AS, Dhanabal V, Blake EJ, Dewey AF, Vetrini F, Felton JL.   +5 more
europepmc   +1 more source

Crosstalk Between Parkinson's Disease and Colorectal Cancer: Genetic Mechanisms, Gut Microbiota, and Therapeutic Insights

Health Care Science, EarlyView.
This review elucidates the crosstalk between Parkinson's disease and colorectal cancer, driven by shared genetics (PRKN, PINK1, DJ‐1) involving oxidative stress, cell cycle regulation, and inflammation. It identifies the gut microbiota—via functional amyloids and short‐chain fatty acids (SCFAs)—as a mechanistic bridge, offering insights for dual ...
Jiacheng Ying, Zhengyuan Fang, Cheng Zhang, Xu Liu, Jianzhi Cui, Zezhi Li, Jiayin Tang   +6 more
wiley   +1 more source

Multiple Sclerosis Misdiagnosis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: A Genotype-Misphenotype Study. [PDF]

Neurol Genet
Mendis DD, Vallamchetla SK, Marin Collazo IV, Sandhu SJS, Meschia JF.   +4 more
europepmc   +1 more source

Autosomal Dominant Polycystic Kidney Disease

Saudi Journal of Kidney Diseases and Transplantation, 1999
Schwenger Vedat, Zeier Martin
doaj  

Autosomal Dominant Polycystic Kidney Disease Presenting as a Painless Epigastric Mass: A Case Report. [PDF]

Am J Case Rep
Zaulkafali TA, Zainal-Abidin ANI, Peter AB, Mohamed-Yassin MS.   +3 more
europepmc   +1 more source

Autosomal dominant hypophosphatemic rickets caused by a novel pathogenic variant in <i>FGF23</i>. [PDF]

JCEM Case Rep
Francis B, Ashok V, Ashraf A, Sasidharan Pillai S.   +3 more
europepmc   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Association of Autosomal Dominant Snowflake Vitreoretinal Degeneration with Retinoschisis. [PDF]

Ophthalmol Sci
Pattnaik BR, Nischal KK, Alekseev O, Williams S, Iannaccone A, Alabek M, Akyuz E, Eldib A, Kabra M, Aslan FS, Vajzovic L, Carmichael B, Ma Z, Jiao X, Hejtmancik JF.   +14 more
europepmc   +1 more source