Výsledky vyhledávání - "Mary Scott Ramnitz"

Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature

Autor: Mary Scott Ramnitz, A. Berberi, Shoji Ichikawa, Mukbil Hourani, Antoine Abchee, Nabil J. Khoury, Michael T. Collins, Georges Nemer, Nina S. Shabb, Marlene Chakhtoura, G. El Hajj Fuleihan

Publikováno v: Osteoporosis International. 29:1987-2009

Hyperphosphatemic familial tumoral calcinosis (HFTC), secondary to fibroblast growth factor 23 (FGF23) gene mutation, is a rare genetic disorder characterized by recurrent calcified masses. We describe young Lebanese cousins presenting with HFTC, bas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d1d06f58e3b470282662de890d0599a
https://doi.org/10.1007/s00198-018-4574-x

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Hypercementosis Associated with ENPP1 Mutations and GACI

Autor: Brian L. Foster, Shira G. Ziegler, Vivek Thumbigere-Math, William A. Gahl, K. FitzGerald, Mary Scott Ramnitz, Kevin S. Hsu, Emily Y. Chu, Michael T. Collins, Carlos Ferreira, Rachel I Gafni, N.I. Chalmers, Martha J. Somerman, A. Alqadi, Michael B. Chavez

Publikováno v: Journal of Dental Research. 97:432-441

Mineralization of bones and teeth is tightly regulated by levels of extracellular inorganic phosphate (P(i)) and pyrophosphate (PP(i)). Three regulators that control pericellular concentrations of P(i) and PP(i) include tissue-nonspecific alkaline ph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cc271c0e862517d7f356467364f2429
https://doi.org/10.1177/0022034517744773

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Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

Publikováno v: Journal of Bone and Mineral Research. 31:1845-1854

Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO. The result is f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::13f77db305a665fa2d693b9a364eb577
https://doi.org/10.1002/jbmr.2870

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A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers

Autor: Ola Nilsson, Maya Lodish, Mary Scott Ramnitz, Gretchen Golas, Giampaolo Trivellin, Constantine A. Stratakis, Thomas C. Markello, Fabio R. Faucz, Margarita Raygada, Kavitha Dileepan, William A. Gahl, Aikaterini A. Nella, David H. Adams, Paul R. Lee, Marie Helene Schernthaner-Reiter, Cynthia J. Tifft

Publikováno v: European Journal of Pediatrics. 175:727-733

X-linked nephrogenic diabetes insipidus (NDI, OMIM#304800) is caused by mutations in the arginine vasopressin (AVP, OMIM*192340) receptor type 2 (AVPR2, OMIM*300538) gene. A 20-month-old boy and his 8-year-old brother presented with polyuria, polydip

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::834fa0978e0d2467314047c87a85f0cd
https://doi.org/10.1007/s00431-015-2684-4

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Bone densitometry in children and adolescents

Autor: Andrea Estrada, Rachel I Gafni, Mary Scott Ramnitz

Publikováno v: Current Opinion in Obstetrics & Gynecology. 26:339-346

Abnormalities in bone health are increasingly recognized in the pediatric population. Although the methodologies for assessing bone mineral density were originally developed for adults, great strides have been made in recent years, improving their ap

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55b965f5dfaa71f6269133a2e7bbcc05
https://doi.org/10.1097/gco.0000000000000100

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Diabetes Clinic at a Distance: Telemedicine Bridges the Gap

Autor: Mary Scott Ramnitz, Toree Malasanos

Publikováno v: Diabetes Spectrum. 26:226-231

In Brief Clinic-to-clinic telemedicine has been shown to be an efficient and effective means of providing diabetes care to remote, underserved regions. Improved access to care has the potential to improve the health of and reduce health care costs fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c63dad78e7b6c148f12c841dd785a6da
https://doi.org/10.2337/diaspect.26.4.226

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Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

Publikováno v: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 31(10)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::86dab31e7744af17c9b12a3c0b20337c
https://pubmed.ncbi.nlm.nih.gov/27164190

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Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations

Autor: Andrea Burke, John Tim Wright, Martha J. Somerman, Sunday O. Akintoye, Mary Scott Ramnitz, Janice S. Lee, Alison M. Boyce, Rachel I Gafni, Brian L. Foster, Michael T. Collins

Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe5fcc1e65a14a272c64392e77899f54
https://europepmc.org/articles/PMC4107543/

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Benign vaginal bleeding in 24 prepubertal patients: clinical, biochemical and imaging features

Autor: Mary Scott Ramnitz, Paul B. Kaplowitz, Aikaterini A. Nella, Radha Nandagopal

Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 27

OBJECTIVE Premature menarche is an uncommon, benign condition characterized by isolated or recurrent menstrual bleeding in the absence of secondary sexual characteristics. METHODS We performed an observational retrospective study to further character

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a7fb55cedcbbc0cf1f2e75b579a55e7
https://doi.org/10.1515/jpem-2013-0415

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