Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Karen J. Loechner"'
Publikováno v:
Journal of Autism and Developmental Disorders.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4bf40c66626762a91b9dcb1dd14bdb03
https://doi.org/10.1007/s10803-023-05976-x
https://doi.org/10.1007/s10803-023-05976-x
Publikováno v:
Case Reports in Endocrinology, Vol 2017 (2017)
Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2–15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who
Externí odkaz:
https://doaj.org/article/a6e9b62bc2ab475ab1b235e0d78631c9
Publikováno v:
International Journal of Cell Biology, Vol 2009 (2009)
Changes in intracellular calcium are necessary for the successful progression of mitosis in many cells. Both elevation and reduction in intracellular calcium can disrupt mitosis by mechanisms that remain ill defined. In this study we explore the role
Externí odkaz:
https://doaj.org/article/b8411b6dd39b4d048071c10cde50eebf
Publikováno v:
Case Reports in Endocrinology
Case Reports in Endocrinology, Vol 2017 (2017)
Case Reports in Endocrinology, Vol 2017 (2017)
Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2–15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f17a92e0c5ca5aa921626352d59fc05
http://europepmc.org/articles/PMC5602651
http://europepmc.org/articles/PMC5602651
Autor:
Nicola A. Quatrano, Karen J. Loechner
Publikováno v:
Current Opinion in Pediatrics. 24:487-493
The diagnosis of many childhood endocrine disorders can be facilitated by an awareness of the associated dermatologic findings. In this review, we will survey examples of endocrine disorders in children that include a prominent or diagnostic dermatol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f4fccb39d3ae35fd9d659afda48031b
https://doi.org/10.1097/mop.0b013e328355a31b
https://doi.org/10.1097/mop.0b013e328355a31b
Autor:
Colin G. Nichols, Carlo Dionisi-Vici, Harley T. Kurata, Milena Pizzoferro, Joseph C. Koster, Alejandro Akrouh, Vittoria Rufini, Karen J. Loechner, Arianna Maiorana, Carlo Colombo, Fabrizio Barbetti, Jean de Ville de Goyet
Publikováno v:
Diabetes
OBJECTIVE The ATP-sensitive K+ channel (KATP) controls insulin secretion from the islet. Gain- or loss-of-function mutations in channel subunits underlie human neonatal diabetes and congenital hyperinsulinism (HI), respectively. In this study, we sou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65c3233921cda23d9e565ae4a1b09929
https://doi.org/10.2337/db10-0731
https://doi.org/10.2337/db10-0731
Publikováno v:
International Journal of Cell Biology
International Journal of Cell Biology, Vol 2009 (2009)
International Journal of Cell Biology, Vol 2009 (2009)
Changes in intracellular calcium are necessary for the successful progression of mitosis in many cells. Both elevation and reduction in intracellular calcium can disrupt mitosis by mechanisms that remain ill defined. In this study we explore the role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::207e2d9a29102a7865945a6573e241e3
https://doi.org/10.1155/2009/487959
https://doi.org/10.1155/2009/487959
Autor:
Justin H Davies, Geneviève Baujat, Samuel J. Garber, Stephen G. Kahler, Olivier Roche, Smail Hadj-Rabia, Jacqueline Stella, Martine Le Merrer, Rashmi Chikarmane, Karen J. Loechner, Wendy E. Smith, Loreto Martorell, Tatevik Shahinyan, Marie-Frederique Tazarourte-Pinturier, Robert Terkeltaub, Elizabeth Wraige, Tanja Wittkampf, Charu Deshpande, Wolfgang Höhne, Lourdes Loidi, Yvonne Nitschke, Ilse Feenstra, Frank Rutsch, Beat Steinmann, Ludovic Martin, Ulrike Botschen, Guest G, K Lambot, Nicolas Chassaing, Marcel du Moulin, Mignon McCulloch
Publikováno v:
American Journal of Human Genetics, 90, 25-39
American Journal of Human Genetics, 90, 1, pp. 25-39
American Journal of Human Genetics, 90, 1, pp. 25-39
Item does not contain fulltext Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial calcification of infancy (GACI) or in pseudoxanthoma elasticum (PXE). GACI is associated with biallelic mutations in ENPP1 in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::106f9b29f5ee28f1acadd2e4fd42cd8a
https://doi.org/10.5167/uzh-73740
https://doi.org/10.5167/uzh-73740
Publikováno v:
Pediatric dentistry. 33(4)
Osteogenesis imperfect (OI) is a group of genetically diverse connective tissue disorders. Bisphosphonates therapy to manage bone fragility, a now common medical therapy for OI, can increase the risk of bisphosphonate-associated osteonecrosis of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4254944781232d0fdfecbcd893a4ff46
https://pubmed.ncbi.nlm.nih.gov/21903004
https://pubmed.ncbi.nlm.nih.gov/21903004
Publikováno v:
International Journal of Pediatric Endocrinology
International Journal of Pediatric Endocrinology, Vol 2010 (2010)
International Journal of Pediatric Endocrinology, Vol 2010 (2010)
Despite decades of different treatment algorithms, the management of congenital adrenal hyperplasia (CAH) remains clinically challenging. This is due to the inherent difficulty of suppressing adrenal androgen production using near physiological dosin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c410235d90816f4b4d1cd5ad54d39e32
http://europepmc.org/articles/PMC2905899
http://europepmc.org/articles/PMC2905899