Results 161 to 170 of about 5,744 (198)

Correction to: Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model. [PDF]

Hum Mol Genet
europepmc   +1 more source

Congenital Insensitivity to Pain and Anhidrosis With Orthopedic and Self-Injury Complications in a 5-Year-Old Boy: A Case Report. [PDF]

Clin Case Rep
Amin Z, Saeed H, Naufil SI, Saba S, Imtiaz A, Akhlaq SH, Ahmad MH, Ali M.   +7 more
europepmc   +1 more source

Novel autonomic dysregulation score in children with hypothalamic syndrome. [PDF]

Endocr Connect
Doelman-Oldenburger NJ, Müller HL, van Santen HM.   +2 more
europepmc   +1 more source

Adolescents' and young adults' reactions to and perceived utility of carrier screening results in the context of a genomic research study. [PDF]

J Genet Couns
Grimes HN, McGowan ML, Sinclair JA, Prows CA, Lipstein EA, Myers MF.   +5 more
europepmc   +1 more source

The genetic architecture of Parkinson's disease on the Island of Crete. [PDF]

NPJ Parkinsons Dis
Boura I, Sait S, Marinakis NM, Arvind K, Chia R, Ray A, Vatsellas G, Loupis T, Pavlaki V, Makrythanasis P, Mitsias P, Xiromerisiou G, Scholz SW, Spanaki C.   +13 more
europepmc   +1 more source

Familial dysautonomia.

Canadian family physician Medecin de famille canadien, 2013
openaire   +1 more source

Long COVID and hypermobility spectrum disorders have shared pathophysiology. [PDF]

Front Neurol
Ganesh R, Munipalli B.
europepmc   +1 more source

Association Between Generalized Joint Hypermobility and Anxiety Disorders in Children: A Case-Control Study. [PDF]

Clin Med Insights Arthritis Musculoskelet Disord
Jari M, Alesaeidi S.
europepmc   +1 more source

Pediatric Scleral Lenses: 21-Year Retrospective Review. [PDF]

Clin Optom (Auckl)
Carrasquillo KG, Riccobono K, Liao J, Shi Y, Asghari B, Brocks D, Crowley E, Peiris B.   +7 more
europepmc   +1 more source

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Familial dysautonomia

Clinical Autonomic Research, 2023
Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic neuropathy (HSAN, type 3) expressed at birth with profound sensory loss and early death. The FD founder mutation in the ELP1 gene arose within the Ashkenazi Jews in the sixteenth century and is present in 1:30 Jews of European ancestry.
Alejandra González-Duarte, Maria Cotrina-Vidal, Horacio Kaufmann, Lucy Norcliffe-Kaufmann   +3 more
openaire   +2 more sources