Results 1 to 10 of about 1,828 (216)

Genomic continuity of Argentinean Mennonites. [PDF]

Sci Rep, 2016
Mennonites are Anabaptist communities that originated in Central Europe about 500 years ago. They initially migrated to different European countries, and in the early 18th century they established their first communities in North America, from where they
Pardo-Seco J, Llull C, Berardi G, Gómez A, Andreatta F, Martinón-Torres F, Toscanini U, Salas A.   +7 more
europepmc   +2 more sources

Revisiting the Genetics of Hypophosphatasia. [PDF]

J Inherit Metab Dis
Overview of the genetic concepts in hypophosphatasia reviewed in this manuscript. ABSTRACT Hypophosphatasia (HPP) is a rare, inherited monogenic disorder that is typically caused by variants in the tissue‐nonspecific alkaline phosphatase (ALPL) gene.
Kishnani PS, Rehder C, Ozono K, Pérez-López J, Del Angel G, Mowrey WR, Balasubramanian M, Högler W, Rush ET.   +8 more
europepmc   +2 more sources

Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population. [PDF]

Hum Mutat
Congenital stationary night blindness (CSNB) is a rare and typically nonprogressive group of genetically heterogeneous disorders resulting in impaired night vision and high myopia with varying levels of visual impairment. Despite being a rare disease with a prevalence of 1:294,000, variants in 22 genes have been associated with specific CSNB phenotypes.
Ling J, Pindwarawala M, Gregory-Evans CY, Kirby M, Gregory-Evans K.   +4 more
europepmc   +2 more sources

Novel <i>NPRL3</i> variant associated with sleep-related hypermotor epilepsy: a case report and educational review. [PDF]

Front Neurosci
Broggi S, Poppert KN, Mauritz M, Kalss G, Leitinger M, Abicht A, Trinka E, Rossini F.   +7 more
europepmc   +1 more source

Skin tape-strips in old order Mennonite toddlers reveal upregulated barrier markers and low T-helper inflammatory tone. [PDF]

Allergy
Rothenberg-Lausell C, David E, Del Duca E, Da Rosa JC, Dahabreh D, Gómez-Arias PJ, Catlin E, Nandymazumdar M, Järvinen KM, Guttman-Yassky E.   +9 more
europepmc   +1 more source

A rare variant in <i>GPR156</i> associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice. [PDF]

Proc Natl Acad Sci U S A
Miller BR, Gonzaga-Jauregui C, Brigatti KW, de Jong J, Breese RS, Ko SY, Puffenberger EG, Van Hout C, Young M, Luna VM, Staples J, First MB, Gregoire HJ, Dwork AJ, Pefanis E, McCarthy S, Brydges S, Rojas J, Ye B, Stahl E, Di Gioia SA, Hen R, Elwood K, Rosoklija G, Li D, Mellis S, Carey D, Croll SD, Overton JD, Macdonald LE, Economides AN, Shuldiner AR, Chuhma N, Rayport S, Amin N, Kushner SA, Alessandri-Haber N, Markx S, Strauss KA.   +38 more
europepmc   +1 more source

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population. [PDF]

Int J Mol Sci
Yanus GA, Suspitsin EN, Imyanitov EN.
europepmc   +1 more source

Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes. [PDF]

Orphanet J Rare Dis
Sulaiman RA, Altassan R, Alshammari R, Alsayed M, Sheikh AN, Nicolas-Jilwan M, Al-Owain M, Al-Hassnan Z.   +7 more
europepmc   +1 more source

Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye. [PDF]

Metab Brain Dis
Uylaş K, Yazıcı H, Altınok YA, Çelik MY, Karapınar FE, Özkaya PY, Isik E, Eraslan C, Canda E, Cogulu O, Karapınar B, Habif S, Çoker M, Uçar SK.   +13 more
europepmc   +1 more source

Low Toxocara Seroprevalence in People in Rural Durango, Mexico. [PDF]

Eur J Microbiol Immunol (Bp), 2019
Alvarado-Esquivel C, Alvarado-Félix ÁO, Alvarado-Félix GA.   +2 more
europepmc   +1 more source