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

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

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

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation

Autor: Retecher Nelson, Fahmida Essop, Angela Ragusa, Melanie M. May, Ron C. Michaelis, Anand Srivastava, Charles E. Schwartz, Lucia Castiglia, Khalid Sossey-Alaoui, Amanda Krause, Laurent Villard, Michael J. Friez, Andrea Goldman, John W. Longshore, Roger E. Stevenson

Publikováno v: Human genetics. 106(1)

A recent study suggested that a dodecamer duplication in exon 42 of the HOPA gene in Xq13 may be a significant factor in the etiology of X-linked mental retardation. In an effort to investigate this possibility, we determined the incidence of the dod

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51de325b452c95b7e448bd5017d80d61
https://pubmed.ncbi.nlm.nih.gov/10982179

Epidemiology of Tumor-Induced Osteomalacia in Germany Based on Real World Data.

Autor: May M; Department of Payer Value & Patient Access, Kyowa Kirin GmbH, Monschauer Str. 1, 40549, Duesseldorf, Germany. Melanie.May@kyowakirin.com., Oheim R; Department of Osteology and Biomechanics, University Hospital Hamburg-Eppendorf (UKE), Lottestraße 59, 22529, Hamburg, Germany., Bovy L; InGef - Institute for Applied Health Research Berlin GmbH, InGef, Otto-Ostrowski-Straße 5, 10249, Berlin, Germany., Doess A; Department of Payer Value & Patient Access, Kyowa Kirin GmbH, Monschauer Str. 1, 40549, Duesseldorf, Germany., Maessen D; Department of Franchise Nephrology, Kyowa Kirin GmbH, Monschauer Str. 1, 40549, Duesseldorf, Germany., Neukirch B; Hochschule Niederrhein, University of Applied Sciences, Competence Center Routine Data, Reinarzstraße 49, 47805, Krefeld, Germany., Norris R; InGef - Institute for Applied Health Research Berlin GmbH, InGef, Otto-Ostrowski-Straße 5, 10249, Berlin, Germany., Williams A; Department of HEOR, Kyowa Kirin International Ltd, 2 Globeside, Fieldhouse Lane, Marlow, SL7 1HZ, UK., Abrahamsen B; Department of Medicine 1, Holbæk Hospital, Smedelundsgade 60, 4300, Holbæk, Denmark.; Department of Clinical Research, University of Southern Denmark (SDU), Campusvej 55, 5230, Odense, Denmark.

Publikováno v: Calcified tissue international [Calcif Tissue Int] 2023 Dec; Vol. 113 (6), pp. 630-639. Date of Electronic Publication: 2023 Nov 18.