Hinderhofer K - Search Results

1

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, Chung WK, Benjamin N, Elliott CG, Eyries M, Fischer C, Gräf S, Hinderhofer K, Humbert M, Keiles SB, Loyd JE, Morrell NW, Newman JH, Soubrier F, Trembath RC, Viales RR, Grünig E. Machado RD, et al. Among authors: hinderhofer k. Hum Mutat. 2015 Dec;36(12):1113-27. doi: 10.1002/humu.22904. Epub 2015 Oct 12. Hum Mutat. 2015. PMID: 26387786 Free PMC article. Review.

2

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.

Kolvenbach CM, Felger T, Schierbaum L, Thiffault I, Pastinen T, Szczepańska M, Zaniew M, Adamczyk P, Bayat A, Yilmaz Ö, Lindenberg TT, Thiele H, Hildebrandt F, Hinderhofer K, Moog U, Hilger AC, Sullivan B, Bartik L, Gnyś P, Grote P, Odermatt B, Reutter HM, Dworschak GC. Kolvenbach CM, et al. Among authors: hinderhofer k. J Med Genet. 2023 Jun;60(6):587-596. doi: 10.1136/jmg-2022-108738. Epub 2022 Nov 15. J Med Genet. 2023. PMID: 36379543 Free PMC article.

3

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

Pfarr N, Szamalek-Hoegel J, Fischer C, Hinderhofer K, Nagel C, Ehlken N, Tiede H, Olschewski H, Reichenberger F, Ghofrani AH, Seeger W, Grünig E. Pfarr N, et al. Among authors: hinderhofer k. Respir Res. 2011 Jul 29;12(1):99. doi: 10.1186/1465-9921-12-99. Respir Res. 2011. PMID: 21801371 Free PMC article.

4

Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.

Pfarr N, Fischer C, Ehlken N, Becker-Grünig T, López-González V, Gorenflo M, Hager A, Hinderhofer K, Miera O, Nagel C, Schranz D, Grünig E. Pfarr N, et al. Among authors: hinderhofer k. Respir Res. 2013 Jan 9;14(1):3. doi: 10.1186/1465-9921-14-3. Respir Res. 2013. PMID: 23298310 Free PMC article.

5

Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years.

Hinderhofer K, Fischer C, Pfarr N, Szamalek-Hoegel J, Lichtblau M, Nagel C, Egenlauf B, Ehlken N, Grünig E. Hinderhofer K, et al. PLoS One. 2014 Mar 12;9(3):e91374. doi: 10.1371/journal.pone.0091374. eCollection 2014. PLoS One. 2014. PMID: 24621962 Free PMC article.

6

[Epigenetics and genetics of pulmonary arterial hypertension--new insights from the last years].

Kwapiszewska G, Viales RR, Ehlken N, Eichstaedt CA, Riemekasten G, Grünig G, Mäder I, Schröder T, Klose H, Hinderhofer K, Fischer C, Ulrich S, Grünig E, Olschewski A. Kwapiszewska G, et al. Among authors: hinderhofer k. Dtsch Med Wochenschr. 2014 Dec;139 Suppl 4:S111-5. doi: 10.1055/s-0034-1387454. Epub 2014 Dec 9. Dtsch Med Wochenschr. 2014. PMID: 25489679 Review. German. No abstract available.

7

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

Evers C, Paramasivam N, Hinderhofer K, Fischer C, Granzow M, Schmidt-Bacher A, Eils R, Steinbeisser H, Schlesner M, Moog U. Evers C, et al. Among authors: hinderhofer k. Eur J Hum Genet. 2015 Dec;23(12):1627-33. doi: 10.1038/ejhg.2015.46. Epub 2015 Mar 25. Eur J Hum Genet. 2015. PMID: 25804400 Free PMC article.

8

Mutation in BMPR2 Promoter: A 'Second Hit' for Manifestation of Pulmonary Arterial Hypertension?

Viales RR, Eichstaedt CA, Ehlken N, Fischer C, Lichtblau M, Grünig E, Hinderhofer K. Viales RR, et al. Among authors: hinderhofer k. PLoS One. 2015 Jul 13;10(7):e0133042. doi: 10.1371/journal.pone.0133042. eCollection 2015. PLoS One. 2015. PMID: 26167679 Free PMC article.

9

BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis.

Evans JD, Girerd B, Montani D, Wang XJ, Galiè N, Austin ED, Elliott G, Asano K, Grünig E, Yan Y, Jing ZC, Manes A, Palazzini M, Wheeler LA, Nakayama I, Satoh T, Eichstaedt C, Hinderhofer K, Wolf M, Rosenzweig EB, Chung WK, Soubrier F, Simonneau G, Sitbon O, Gräf S, Kaptoge S, Di Angelantonio E, Humbert M, Morrell NW. Evans JD, et al. Among authors: hinderhofer k. Lancet Respir Med. 2016 Feb;4(2):129-37. doi: 10.1016/S2213-2600(15)00544-5. Epub 2016 Jan 19. Lancet Respir Med. 2016. PMID: 26795434 Free PMC article.

10

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

Evers C, Kaufmann L, Seitz A, Paramasivam N, Granzow M, Karch S, Fischer C, Hinderhofer K, Gdynia G, Elsässer M, Pinkert S, Schlesner M, Bartram CR, Moog U. Evers C, et al. Among authors: hinderhofer k. Am J Med Genet A. 2016 Jun;170(6):1502-9. doi: 10.1002/ajmg.a.37632. Epub 2016 Mar 26. Am J Med Genet A. 2016. PMID: 27016154

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