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searching for Angelman syndrome 25 found (132 total)

Artificial transcription factor (1,698 words) [view diff] case mismatch in snippet view article find links to article

reprogramming cell state, cancer treatment, and a plausible treatment for Angelman Syndrome. The DNA-binding domain routes the ATF to a specific gene sequence

Topotecan (1,512 words) [view diff] case mismatch in snippet view article find links to article

Angelman Syndrome. University of Washington, Seattle. PMID 20301323. Bailus BJ, Segal DJ (June 2014). "The prospect of molecular therapy for Angelman

NIPA2 (410 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 (1,007 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

Intragenomic and intrauterine conflict in humans (2,324 words) [view diff] case mismatch in snippet view article find links to article

believed to reflect the absence of the paternally derived gene, and Angelman Syndrome reflects the absence of the maternal copy. In the case of Prader-Willi

Small nuclear ribonucleoprotein polypeptide N (1,217 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 (1,310 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

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

Progesterone receptor (2,847 words) [view diff] exact match in snippet view article find links to article

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

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 (289 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 (873 words) [view diff] case mismatch in snippet view article find links to article

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

Alycia Lane (1,715 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 (3,791 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

Guy Cheron (1,382 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

Sensory processing disorder (5,778 words) [view diff] exact match in snippet view article find links to article

"Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class". Journal of Child Psychology and Psychiatry, and

Comparative genomic hybridization (5,284 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

Fluoxetine (11,667 words) [view diff] case mismatch in snippet view article find links to article

inactive as of March 2024 (link) Hagerman RJ (16 September 1999). "Angelman Syndrome and Prader-Willi Syndrome". Neurodevelopmental Disorders: Diagnosis

List of Old Newingtonians awarded Imperial and Australian honours (178 words) [view diff] case mismatch in snippet view article find links to article

Australia For service to the National Heart Foundation, athletics and the Angelman Syndrome Association : 20 Henry Budden Commander of The Order of the British

Mark Cushman (2,813 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

Prenatal testing (8,910 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

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

Developmental bioelectricity (17,264 words) [view diff] case mismatch 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