Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred
Yu, Y, Sanderson, S.R, Reyes, M, Sharma, A, Dunbar, N, Srivastava, T, Jüppner, H, Bergwitz, C
Published in Bone (New York, N.Y.) (01.05.2012)
Published in Bone (New York, N.Y.) (01.05.2012)
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Corrigendum to “Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred” [Bone 50 (2012) 1100–1106]
Yu, Y, Sanderson, S.R, Reyes, M, Sharma, A, Dunbar, N, Srivastava, T, Jüppner, H, Bergwitz, C
Published in Bone (New York, N.Y.) (01.05.2012)
Published in Bone (New York, N.Y.) (01.05.2012)
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Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications
Kremke, B, Bergwitz, C, Ahrens, W, Schütt, S, Schumacher, M, Wagner, V, Holterhus, P-M, Jüppner, H, Hiort, O
Published in Experimental and clinical endocrinology & diabetes (01.02.2009)
Published in Experimental and clinical endocrinology & diabetes (01.02.2009)
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A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous α1-Antitrypsin deficiency
BERGWITZ, C, BRABANT, G, TRAUTWEIN, C, MANNS, M. P
Published in The American journal of gastroenterology (01.04.2002)
Published in The American journal of gastroenterology (01.04.2002)
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A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous alpha1-antitrypsin deficiency
Bergwitz, C, Brabant, G, Trautwein, C, Manns, M P
Published in The American journal of gastroenterology (01.04.2002)
Published in The American journal of gastroenterology (01.04.2002)
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Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene
Schipani, E, Weinstein, L S, Bergwitz, C, Iida-Klein, A, Kong, X F, Stuhrmann, M, Kruse, K, Whyte, M P, Murray, T, Schmidtke, J
Published in The journal of clinical endocrinology and metabolism (01.05.1995)
Published in The journal of clinical endocrinology and metabolism (01.05.1995)
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Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia
Bergwitz, C., Prochnau, A., Mayr, B., Kramer, F.‐J., Rittierodt, M., Berten, H.‐L., Hausamen, J.‐E., Brabant, G.
Published in Journal of inherited metabolic disease (01.11.2001)
Published in Journal of inherited metabolic disease (01.11.2001)
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Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis
Dasgupta, Debayan, Wee, Mark J, Reyes, Monica, Li, Yuwen, Simm, Peter J, Sharma, Amita, Schlingmann, Karl-Peter, Janner, Marco, Biggin, Andrew, Lazier, Joanna, Gessner, Michaela, Chrysis, Dionisios, Tuchman, Shamir, Baluarte, H Jorge, Levine, Michael A, Tiosano, Dov, Insogna, Karl, Hanley, David A, Carpenter, Thomas O, Ichikawa, Shoji, Hoppe, Bernd, Konrad, Martin, Sävendahl, Lars, Munns, Craig F, Lee, Hang, Jüppner, Harald, Bergwitz, Clemens
Published in Journal of the American Society of Nephrology (01.10.2014)
Published in Journal of the American Society of Nephrology (01.10.2014)
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Familial isolated parathyroid adenoma in a consanguineous family
BERQWITZ, C, BREMER, B, SOUDAH, B, MAYR, B, BRABANT, G
Published in Journal of endocrinological investigation (01.05.2001)
Published in Journal of endocrinological investigation (01.05.2001)
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SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis
Bergwitz, Clemens, Roslin, Nicole M, Tieder, Martin, Loredo-Osti, J C, Bastepe, Murat, Abu-Zahra, Hilal, Frappier, Danielle, Burkett, Kelly, Carpenter, Thomas O, Anderson, Donald, Garabedian, Michele, Sermet, Isabelle, Fujiwara, T Mary, Morgan, Kenneth, Tenenhouse, Harriet S, Juppner, Harald
Published in American journal of human genetics (01.02.2006)
Published in American journal of human genetics (01.02.2006)
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Cellular Mechanism of Decreased Bone in Brtl Mouse Model of OI: Imbalance of Decreased Osteoblast Function and Increased Osteoclasts and Their Precursors
Uveges, Thomas E, Collin‐Osdoby, Patricia, Cabral, Wayne A, Ledgard, Felicia, Goldberg, Leah, Bergwitz, Clemens, Forlino, Antonella, Osdoby, Philip, Gronowicz, Gloria A, Marini, Joan C
Published in Journal of bone and mineral research (01.12.2008)
Published in Journal of bone and mineral research (01.12.2008)
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Polymorphism in exon M7 of the PTHR gene
Schipani, E, Hustmyer, F G, Bergwitz, C, Jüppner, H
Published in Human molecular genetics (01.07.1994)
Published in Human molecular genetics (01.07.1994)
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Brittle IV Mouse Model for Osteogenesis Imperfecta IV Demonstrates Postpubertal Adaptations to Improve Whole Bone Strength
Kozloff, Kenneth M, Carden, Angela, Bergwitz, Clemens, Forlino, Antonella, Uveges, Thomas E, Morris, Michael D, Marini, Joan C, Goldstein, Steven A
Published in Journal of bone and mineral research (01.04.2004)
Published in Journal of bone and mineral research (01.04.2004)
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Full activation of chimeric receptors by hybrids between parathyroid hormone and calcitonin. Evidence for a common pattern of ligand-receptor interaction
Bergwitz, C, Gardella, T J, Flannery, M R, Potts, Jr, J T, Kronenberg, H M, Goldring, S R, Jüppner, H
Published in The Journal of biological chemistry (25.10.1996)
Published in The Journal of biological chemistry (25.10.1996)
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A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous [alpha]1-antitrypsin deficiency
Bergwitz, C, Brabant, G, Trautwein, C, Manns, M P
Published in The American journal of gastroenterology (01.04.2002)
Published in The American journal of gastroenterology (01.04.2002)
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A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous a sub(1)-antitrypsin deficiency
Bergwitz, C, Brabant, G, Trautwein, C, Manns, M P
Published in The American journal of gastroenterology (01.04.2002)
Published in The American journal of gastroenterology (01.04.2002)
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