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Best matches for Jüppner H[au]:

Epidemiology and Diagnosis of Hypoparathyroidism. Clarke BL et al. J Clin Endocrinol Metab. (2016)

Pseudohypoparathyroidism: one gene, several syndromes. Tafaj O et al. J Endocrinol Invest. (2017)

FGF23 and Left Ventricular Hypertrophy in Children with CKD. Mitsnefes MM et al. Clin J Am Soc Nephrol. (2018)

Search results

Items: 1 to 50 of 303

1.

A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals.

Reyes M, Bravenboer B, Jüppner H.

J Bone Miner Res. 2018 Nov 20. doi: 10.1002/jbmr.3628. [Epub ahead of print]

PMID:
30458061
2.

Phosphate homeostasis disorders.

Christov M, Jüppner H.

Best Pract Res Clin Endocrinol Metab. 2018 Oct;32(5):685-706. doi: 10.1016/j.beem.2018.06.004. Epub 2018 Jun 18. Review.

PMID:
30449549
3.

Pseudohypoparathyroidism.

Linglart A, Levine MA, Jüppner H.

Endocrinol Metab Clin North Am. 2018 Dec;47(4):865-888. doi: 10.1016/j.ecl.2018.07.011. Epub 2018 Oct 12. Review.

PMID:
30390819
4.

A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

Biebermann H, Kleinau G, Schnabel D, Bockenhauer D, Wilson LC, Tully I, Kiff S, Scheerer P, Reyes M, Paisdzior S, Gregory JW, Allgrove J, Krude H, Mannstadt M, Gardella TJ, Dattani M, Jüppner H, Grüters A.

J Clin Endocrinol Metab. 2019 Apr 1;104(4):1079-1089. doi: 10.1210/jc.2018-01250.

PMID:
30312418
5.

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.

Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A.

Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. Review.

6.

Discovery of Orally Bioavailable Selective Inhibitors of the Sodium-Phosphate Cotransporter NaPi2a (SLC34A1).

Filipski KJ, Sammons MF, Bhattacharya SK, Panteleev J, Brown JA, Loria PM, Boehm M, Smith AC, Shavnya A, Conn EL, Song K, Weng Y, Facemire C, Jüppner H, Clerin V.

ACS Med Chem Lett. 2018 Apr 12;9(5):440-445. doi: 10.1021/acsmedchemlett.8b00013. eCollection 2018 May 10.

PMID:
29795756
7.

Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia.

Saito H, Noda H, Gatault P, Bockenhauer D, Loke KY, Hiort O, Silve C, Sharwood E, Martin RM, Dillon MJ, Gillis D, Harris M, Rao SD, Pauli RM, Gardella TJ, Jüppner H.

J Clin Endocrinol Metab. 2018 Jul 1;103(7):2660-2669. doi: 10.1210/jc.2018-00332.

PMID:
29788189
8.

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.

Hanna P, Grybek V, Perez de Nanclares G, Tran LC, de Sanctis L, Elli F, Errea J, Francou B, Kamenicky P, Linglart L, Pereda A, Rothenbuhler A, Tessaris D, Thiele S, Usardi A, Shoemaker AH, Kottler ML, Jüppner H, Mantovani G, Linglart A.

J Bone Miner Res. 2018 Aug;33(8):1480-1488. doi: 10.1002/jbmr.3450. Epub 2018 Jun 7.

9.

Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation.

Goldenstein PT, Neves PD, Balbo BE, Elias RM, Pereira AC, Onuchic LF, Jüppner H, Jorgetti V, Abensur H, Moysés RM.

Am J Kidney Dis. 2018 Sep;72(3):457-461. doi: 10.1053/j.ajkd.2017.12.020. Epub 2018 Mar 14.

10.

Inducible podocyte-specific deletion of CTCF drives progressive kidney disease and bone abnormalities.

Christov M, Clark AR, Corbin B, Hakroush S, Rhee EP, Saito H, Brooks D, Hesse E, Bouxsein M, Galjart N, Jung JY, Mundel P, Jüppner H, Weins A, Greka A.

JCI Insight. 2018 Feb 22;3(4). pii: 95091. doi: 10.1172/jci.insight.95091. [Epub ahead of print]

11.

Erratum to "Patterns of FGF-23, DMP1, and MEPE expression in patients with chronic kidney disease" [Bone, 45(6) (2009) 1161-1168].

Pereira RC, Jűppner H, Azucena-Serrano CE, Yadin O, Salusky IB, Wesseling-Perry K.

Bone. 2018 Mar;108:210-211. doi: 10.1016/j.bone.2017.12.019. Epub 2017 Dec 28. No abstract available.

PMID:
29290423
12.

Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A.

Perez KM, Lee EB, Kahanda S, Duis J, Reyes M, Jüppner H, Shoemaker AH.

Am J Med Genet A. 2018 Feb;176(2):283-289. doi: 10.1002/ajmg.a.38534. Epub 2017 Nov 28.

13.

FGF23 and Left Ventricular Hypertrophy in Children with CKD.

Mitsnefes MM, Betoko A, Schneider MF, Salusky IB, Wolf MS, Jüppner H, Warady BA, Furth SL, Portale AA.

Clin J Am Soc Nephrol. 2018 Jan 6;13(1):45-52. doi: 10.2215/CJN.02110217. Epub 2017 Oct 12.

14.

Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.

Fernandez M, Zambrano MJ, Riquelme J, Castiglioni C, Kottler ML, Jüppner H, Mericq V.

J Pediatr Endocrinol Metab. 2017 Oct 26;30(10):1125-1132. doi: 10.1515/jpem-2017-0226.

15.

A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.

Reyes M, Karaca A, Bastepe M, Gulcelik NE, Jüppner H.

Bone. 2017 Oct;103:281-286. doi: 10.1016/j.bone.2017.07.013. Epub 2017 Jul 12.

16.

Mice maintain predominantly maternal Gαs expression throughout life in brown fat tissue (BAT), but not other tissues.

Tafaj O, Hann S, Ayturk U, Warman ML, Jüppner H.

Bone. 2017 Oct;103:177-187. doi: 10.1016/j.bone.2017.07.001. Epub 2017 Jul 8.

17.

Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing.

Carroll RW, Katz ML, Paul E, Jüppner H.

N Engl J Med. 2017 Jun 8;376(23):2266-2275. doi: 10.1056/NEJMcpc1616019. No abstract available.

18.

Fractures and Osteomalacia in a Patient Treated With Frequent Home Hemodialysis.

Hanudel MR, Froch L, Gales B, Jüppner H, Salusky IB.

Am J Kidney Dis. 2017 Sep;70(3):445-448. doi: 10.1053/j.ajkd.2017.03.015. Epub 2017 May 9.

19.

Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.

Grüters-Kieslich A, Reyes M, Sharma A, Demirci C, DeClue TJ, Lankes E, Tiosano D, Schnabel D, Jüppner H.

J Clin Endocrinol Metab. 2017 Aug 1;102(8):2670-2677. doi: 10.1210/jc.2017-00395.

20.

Response of Npt2a knockout mice to dietary calcium and phosphorus.

Li Y, Caballero D, Ponsetto J, Chen A, Zhu C, Guo J, Demay M, Jüppner H, Bergwitz C.

PLoS One. 2017 Apr 27;12(4):e0176232. doi: 10.1371/journal.pone.0176232. eCollection 2017.

21.

Acute Parathyroid Hormone Injection Increases C-Terminal but Not Intact Fibroblast Growth Factor 23 Levels.

Knab VM, Corbin B, Andrukhova O, Hum JM, Ni P, Rabadi S, Maeda A, White KE, Erben RG, Jüppner H, Christov M.

Endocrinology. 2017 May 1;158(5):1130-1139. doi: 10.1210/en.2016-1451.

22.

FGF23 Is Not Associated With Age-Related Changes in Phosphate, but Enhances Renal Calcium Reabsorption in Girls.

Mitchell DM, Jüppner H, Burnett-Bowie SM.

J Clin Endocrinol Metab. 2017 Apr 1;102(4):1151-1160. doi: 10.1210/jc.2016-4038.

23.

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

Grigelioniene G, Nevalainen PI, Reyes M, Thiele S, Tafaj O, Molinaro A, Takatani R, Ala-Houhala M, Nilsson D, Eisfeldt J, Lindstrand A, Kottler ML, Mäkitie O, Jüppner H.

J Bone Miner Res. 2017 Apr;32(4):776-783. doi: 10.1002/jbmr.3083. Epub 2017 Feb 24.

24.

Fibroblast Growth Factor 23 Levels Associate with AKI and Death in Critical Illness.

Leaf DE, Jacob KA, Srivastava A, Chen ME, Christov M, Jüppner H, Sabbisetti VS, Martin A, Wolf M, Waikar SS.

J Am Soc Nephrol. 2017 Jun;28(6):1877-1885. doi: 10.1681/ASN.2016080836. Epub 2016 Dec 27.

25.

Pseudohypoparathyroidism: one gene, several syndromes.

Tafaj O, Jüppner H.

J Endocrinol Invest. 2017 Apr;40(4):347-356. doi: 10.1007/s40618-016-0588-4. Epub 2016 Dec 19. Review.

PMID:
27995443
26.

Nonclassic features of pseudohypoparathyroidism type 1A.

Shoemaker AH, Jüppner H.

Curr Opin Endocrinol Diabetes Obes. 2017 Feb;24(1):33-38. doi: 10.1097/MED.0000000000000306. Review.

27.

Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.

Nampoothiri S, Fernández-Rebollo E, Yesodharan D, Gardella TJ, Rush ET, Langman CB, Jüppner H.

J Clin Endocrinol Metab. 2016 Nov;101(11):4283-4289. Epub 2016 Jul 13.

28.

Fibroblast growth factor 23: fueling the fire.

Hanudel M, Jüppner H, Salusky IB.

Kidney Int. 2016 Nov;90(5):928-930. doi: 10.1016/j.kint.2016.08.013.

29.

Fibroblast Growth Factor 23 and Risk of CKD Progression in Children.

Portale AA, Wolf MS, Messinger S, Perwad F, Jüppner H, Warady BA, Furth SL, Salusky IB.

Clin J Am Soc Nephrol. 2016 Nov 7;11(11):1989-1998. Epub 2016 Aug 25.

30.

Prolonged Pharmacokinetic and Pharmacodynamic Actions of a Pegylated Parathyroid Hormone (1-34) Peptide Fragment.

Guo J, Khatri A, Maeda A, Potts JT Jr, Jüppner H, Gardella TJ.

J Bone Miner Res. 2017 Jan;32(1):86-98. doi: 10.1002/jbmr.2917. Epub 2016 Sep 9.

31.

Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation.

Tenhola S, Voutilainen R, Reyes M, Toiviainen-Salo S, Jüppner H, Mäkitie O.

Eur J Endocrinol. 2016 Sep;175(3):211-8. doi: 10.1530/EJE-16-0109. Epub 2016 Jun 22.

32.

Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus.

Poradosu S, Bravenboer B, Takatani R, Jüppner H.

BMJ Case Rep. 2016 May 11;2016. pii: bcr2016214673. doi: 10.1136/bcr-2016-214673.

33.

Epidemiology and Diagnosis of Hypoparathyroidism.

Clarke BL, Brown EM, Collins MT, Jüppner H, Lakatos P, Levine MA, Mannstadt MM, Bilezikian JP, Romanischen AF, Thakker RV.

J Clin Endocrinol Metab. 2016 Jun;101(6):2284-99. doi: 10.1210/jc.2015-3908. Epub 2016 Mar 4. Review.

34.

Fibroblast growth factor 23 levels are elevated and associated with severe acute kidney injury and death following cardiac surgery.

Leaf DE, Christov M, Jüppner H, Siew E, Ikizler TA, Bian A, Chen G, Sabbisetti VS, Bonventre JV, Cai X, Wolf M, Waikar SS.

Kidney Int. 2016 Apr;89(4):939-48. doi: 10.1016/j.kint.2015.12.035. Epub 2016 Feb 17.

35.

Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.

Zhu Y, He Q, Aydin C, Rubera I, Tauc M, Chen M, Weinstein LS, Marshansky V, Jüppner H, Bastepe M.

Endocrinology. 2016 Feb;157(2):497-507. doi: 10.1210/en.2015-1639. Epub 2015 Dec 15.

36.

Hypoplastic Metatarsals--Beyond Cosmesis.

Sharma A, Phillips AJ, Jüppner H.

N Engl J Med. 2015 Nov 26;373(22):2189-90. doi: 10.1056/NEJMc1508520. No abstract available.

37.

Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.

Takatani R, Molinaro A, Grigelioniene G, Tafaj O, Watanabe T, Reyes M, Sharma A, Singhal V, Raymond FL, Linglart A, Jüppner H.

J Bone Miner Res. 2016 Apr;31(4):796-805. doi: 10.1002/jbmr.2731. Epub 2015 Nov 14.

38.

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Jüppner H, Kispert A, Hildebrandt F.

Am J Hum Genet. 2015 Aug 6;97(2):291-301. doi: 10.1016/j.ajhg.2015.07.001. Epub 2015 Jul 30.

39.

Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B).

Takatani R, Minagawa M, Molinaro A, Reyes M, Kinoshita K, Takatani T, Kazukawa I, Nagatsuma M, Kashimada K, Sato K, Matsushita K, Nomura F, Shimojo N, Jüppner H.

Bone. 2015 Oct;79:15-20. doi: 10.1016/j.bone.2015.05.011. Epub 2015 May 19.

40.

A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.

Lee S, Mannstadt M, Guo J, Kim SM, Yi HS, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H.

J Bone Miner Res. 2015 Oct;30(10):1803-13. doi: 10.1002/jbmr.2532. Epub 2015 Jun 8.

41.

Genetic and epigenetic defects at the GNAS locus cause different forms of pseudohypoparathyroidism.

Jüppner H.

Ann Endocrinol (Paris). 2015 May;76(2):92-7. doi: 10.1016/j.ando.2015.03.011. Epub 2015 Apr 14. Review. No abstract available.

PMID:
25882888
42.

Osteocytic protein expression response to doxercalciferol therapy in pediatric dialysis patients.

Pereira RC, Jüppner H, Gales B, Salusky IB, Wesseling-Perry K.

PLoS One. 2015 Mar 16;10(3):e0120856. doi: 10.1371/journal.pone.0120856. eCollection 2015.

43.

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth.

Bréhin AC, Colson C, Maupetit-Méhouas S, Grybek V, Richard N, Linglart A, Kottler ML, Jüppner H.

J Clin Endocrinol Metab. 2015 Apr;100(4):E623-31. doi: 10.1210/jc.2014-4047. Epub 2015 Jan 20.

44.

TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib).

Molinaro A, Tiosano D, Takatani R, Chrysis D, Russell W, Koscielniak N, Kottler ML, Agretti P, De Marco G, Ahtiainen P, Christov M, Mäkitie O, Tonacchera M, Jüppner H.

J Bone Miner Res. 2015 May;30(5):906-12. doi: 10.1002/jbmr.2408.

45.

Hypoparathyroidism and central diabetes insipidus: in search of the link.

Eyal O, Oren A, Jüppner H, Somech R, De Bellis A, Mannstadt M, Szalat A, Bleiberg M, Weisman Y, Weintrob N.

Eur J Pediatr. 2014 Dec;173(12):1731-4. doi: 10.1007/s00431-014-2448-6. Epub 2014 Nov 4.

46.

Lack of FGF23 response to acute changes in serum calcium and PTH in humans.

Wesseling-Perry K, Wang H, Elashoff R, Gales B, Jüppner H, Salusky IB.

J Clin Endocrinol Metab. 2014 Oct;99(10):E1951-6. doi: 10.1210/jc.2014-2125. Epub 2014 Jul 25.

47.

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.

Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C.

J Am Soc Nephrol. 2014 Oct;25(10):2366-75. doi: 10.1681/ASN.2013101085. Epub 2014 Apr 3.

48.

Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

Kitaoka T, Miyoshi Y, Namba N, Miura K, Kubota T, Ohata Y, Fujiwara M, Takagi M, Hasegawa T, Jüppner H, Ozono K.

Eur J Pediatr. 2014 Jun;173(6):799-804. doi: 10.1007/s00431-013-2252-8. Epub 2014 Jan 4. Review.

PMID:
24390061
49.

Caffey disease: new perspectives on old questions.

Nistala H, Mäkitie O, Jüppner H.

Bone. 2014 Mar;60:246-51. doi: 10.1016/j.bone.2013.12.030. Epub 2013 Dec 31. Review.

50.

Disordered FGF23 and mineral metabolism in children with CKD.

Portale AA, Wolf M, Jüppner H, Messinger S, Kumar J, Wesseling-Perry K, Schwartz GJ, Furth SL, Warady BA, Salusky IB.

Clin J Am Soc Nephrol. 2014 Feb;9(2):344-53. doi: 10.2215/CJN.05840513. Epub 2013 Dec 5.

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