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searching for Angelman syndrome 22 found (143 total)

Topotecan (1,477 words) [view diff] exact match in snippet view article find links to article

1038/nature10726. PMC 3257422. PMID 22190039. Beaudet AL (December 2011). "Angelman syndrome: Drugs to awaken a paternal gene". Nature. 481 (7380): 150–2. doi:10

NIPA2 (413 words) [view diff] exact match in snippet view article find links to article

Non-imprinted in Prader-Willi/Angelman syndrome region protein 2 is a protein that in humans is encoded by the NIPA2 gene. GRCh38: Ensembl release 89:

NIPA1 (671 words) [view diff] exact match in snippet view article find links to article

Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1 gene. This gene encodes a potential

Arthur Beaudet (1,097 words) [view diff] exact match in snippet view article find links to article

co-discovered that the UBE3A gene was inactivated as the cause of Angelman syndrome, and that deletion of the snoRNAs likely contributes to the Prader-Willi

Small nuclear ribonucleoprotein polypeptide N (1,224 words) [view diff] exact match in snippet view article find links to article

pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome". Clin. Chem. 52 (6): 1005–13. doi:10.1373/clinchem.2005.065086. PMID 16574761

Eric Klann (1,311 words) [view diff] case mismatch in snippet view article find links to article

Klann serves on the Scientific Advisory Boards of the Foundation for Angelman Syndrome Therapeutics and Pitt Hopkins Syndrome International Network. He also

MEG8 (229 words) [view diff] exact match in snippet view article find links to article

imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region". Human Molecular Genetics. 11 (13): 1527–38. doi:10.1093/hmg/11

Small nucleolar RNA SNORD113 (752 words) [view diff] exact match in snippet view article find links to article

imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region". Hum. Mol. Genet. 11 (13): 1527–38. doi:10.1093/hmg/11.13

Michael Ehlers (304 words) [view diff] case mismatch in snippet view article find links to article

Neuron. 91 (1): 15–18. July 2016. doi:10.1016/j.neuron.2016.06.024. "Angelman Syndrome Foundation". www.angelman.org. Retrieved 12 March 2018. Ehlers, Michael

Marcus Pembrey (887 words) [view diff] exact match in snippet view article find links to article

X syndrome for which he proposed a premutation in 1985. and then Angelman syndrome - an early example of genomic imprinting in humans. This latter research

Progesterone receptor (2,939 words) [view diff] exact match in snippet view article find links to article

CL, Lev-Lehman E, Tsai SY, Tsai MJ, et al. (February 1999). "The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone

Alycia Lane (1,717 words) [view diff] case mismatch in snippet view article find links to article

for Writing on a special story about a mysterious disorder called 'Angelman Syndrome'. In addition, she has won multiple Emmy Awards at KNBC, along with

Small nucleolar RNA (3,889 words) [view diff] exact match in snippet view article find links to article

imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region". Human Molecular Genetics. 11 (13): 1527–1538. doi:10.1093/hmg/11

Sodium/hydrogen exchanger 6 (593 words) [view diff] case mismatch in snippet view article find links to article

1293–304. doi:10.1091/mbc.E09-09-0767. PMC 2847532. PMID 20130086. "Angelman Syndrome - NORD (National Organization for Rare Disorders)". NORD (National

Guy Cheron (1,393 words) [view diff] exact match in snippet view article find links to article

presenting neurological diseases ranging from cerebellar ataxia, Angelman syndrome, FAS and Steinert disease. He also actively participate to numerous

Shapiro–Senapathy algorithm (8,408 words) [view diff] exact match in snippet view article find links to article

Guitart, Miriam; Ruiz, Anna (15 October 2021). "New genes involved in Angelman syndrome-like: Expanding the genetic spectrum". PLOS ONE. 16 (10) e0258766

Comparative genomic hybridization (5,294 words) [view diff] exact match in snippet view article find links to article

involving 15q11-13, while a maternal aberration in the same region causes Angelman syndrome (AS). In both syndromes, the majority of cases (75%) are the result

Mark Cushman (2,904 words) [view diff] exact match in snippet view article find links to article

visceral Leishmaniasis, African trypanosomiasis (sleeping sickness), and Angelman syndrome. Another main contribution of Mark Cushman and his group deals with

Fluoxetine (12,073 words) [view diff] case mismatch in snippet view article find links to article

2018. Retrieved 12 February 2024. Hagerman RJ (16 September 1999). "Angelman Syndrome and Prader-Willi Syndrome". Neurodevelopmental Disorders: Diagnosis

1998 Australia Day Honours (120 words) [view diff] case mismatch in snippet view article find links to article

Division of the National Heart Foundation, to athletics, and to the Angelman Syndrome Association Dr Thomas Christopher Kenneth Brown For service to the

Prenatal testing (9,370 words) [view diff] exact match in snippet view article find links to article

WAGR syndrome DiGeorge syndrome Fragile X syndrome – Prader-Willi/Angelman syndrome Autosomal recessive conditions occur when both parents pass on a mutation

Developmental bioelectricity (17,490 words) [view diff] exact match in snippet view article find links to article

ribs Homo sapiens, Mus musculus GABA-A receptor (chloride channel) Angelman syndrome - craniofacial (e.g., cleft palate) and hand patterning Homo sapiens