Výsledky vyhledávání - "Melanie M. May"

Akademický článek

Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree

Autor: Christopher Ronald Funk, Elizabeth S. Huey, Melanie M. May, Yunhui Peng, Ekaterina Michonova, Robert G. Best, Charles E. Schwartz, Anna V. Blenda

Publikováno v: Journal of International Medical Research, Vol 48 (2020)

Objective Split-hand/foot malformation (SHFM) is a rare, often debilitating, congenital limb malformation. A single nucleotide polymorphism within the leucine zipper containing kinase AZK ( ZAK ) gene was recently associated with SHFM in two consangu

Externí odkaz: https://doaj.org/article/ee4a7c91dfc04162ac5b53ad3511b86d

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Akademický článek

Missense mutation R338W in ARHGEF9 in a family with X-linked intellectual disability with variable macrocephaly and macro-orchidism

Autor: Philip eLong, Melanie M May, Victoria M James, Simone eGranno, John P Johnson, Patrick eTarpey, Roger E Stevenson, Kirsten eHarvey, Charles E Schwartz, Robert J Harvey

Publikováno v: Frontiers in Molecular Neuroscience, Vol 8 (2016)

Non-syndromal X-linked intellectual disability (NS-XLID) represents a broad group of clinical disorders in which ID is the only clinically consistent manifestation. Although in many cases either chromosomal linkage data or knowledge of the >100 exist

Externí odkaz: https://doaj.org/article/99802d9885ef4e0ebafbfd7d41f3db6e

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Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree

Autor: Charles E. Schwartz, Yunhui Peng, Anna V. Blenda, Robert G. Best, Christopher Ronald Funk, Ekaterina Michonova, Melanie M. May, Elizabeth S Huey

Publikováno v: The Journal of International Medical Research
Journal of International Medical Research, Vol 48 (2020)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ed99970053b8a10fca02a6746bdf47a
https://pubmed.ncbi.nlm.nih.gov/32266845

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Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders

Autor: Melanie M. May, Jozef Gecz, Patrick S. Tarpey, Annick Toutain, Pierre-Simon Jouk, Slyvain Briault, Lucy Raymond, Cindy Skinner, William Allen, Roger E. Stevenson, Anna Hackett, William Heath, Tao Wang, Tejasvi Niranjan, Siddharth Srivastava, Charles E. Schwartz

Publikováno v: Molecular genetics & genomic medicine
Molecular Genetics & Genomic Medicine

Background Mutations in mediator of RNA polymerase II transcription subunit 12 homolog (MED12, OMIM 300188) cause X‐linked intellectual disability (XLID) disorders including FG, Lujan, and Ohdo syndromes. The Gli3‐dependent Sonic Hedgehog (SHH) s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdcef187a4f1c5428b288d4b75814a43
https://repository.uantwerpen.be/docstore/d:irua:2789

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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Publikováno v: Journal of Medical Genetics. 44:472-477

A novel missense mutation in the mediator of RNA polymerase II transcription subunit 12 (MED12) gene has been found in the original family with Lujan syndrome and in a second family (K9359) that was initially considered to have Opitz–Kaveggia (FG)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bb683baec7fc85af39995d91f049b7c
https://doi.org/10.1136/jmg.2006.048637

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Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations

Autor: Charles E. Schwartz, Michael Marble, Melanie M. May, Kytja S. Voeller, Richard J. Simensen, Roger E. Stevenson

Publikováno v: American journal of medical genetics. Part A. (13)

A Cajun kindred with Pelizaeus-Merzbacher disease was found to have a p.Q128X mutation in exon 3B of proteolipid protein 1 (PLP1). The affected males were globally delayed in development, nonambulatory, and severely dysarthric. The heterozygous femal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da34bf8d78b7768ac369c15e3bc6a01e
https://pubmed.ncbi.nlm.nih.gov/17568416

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X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype

Autor: R. Curtis Rogers, Humberto Su, Kenton R. Holden, Marco R. Molinero, Oscar F. Zuñiga, Melanie M. May, Charles E. Schwartz

Publikováno v: Journal of child neurology. 20(10)

We report a family with X-linked mental retardation that has a novel mutation in the monocarboxylate transporter 8 ( MCT8) gene associated with a characteristic neurodevelopmental phenotype with early childhood hypotonia that progresses to spasticity

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e27d704a6b0abaffbaf87d248b34553
https://pubmed.ncbi.nlm.nih.gov/16417886

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