Heidemann PH - Search Results

1

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.

Scharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, Jaksch M. Scharfe C, et al. Among authors: heidemann ph. J Med Genet. 2000 Sep;37(9):669-73. doi: 10.1136/jmg.37.9.669. J Med Genet. 2000. PMID: 10978358 Free PMC article.

2

Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?

Evers C, Heidemann PH, Dunstheimer D, Schulze E, Haag C, Janssen JW, Fischer C, Jauch A, Moog U. Evers C, et al. Among authors: heidemann ph. Clin Genet. 2011 May;79(5):489-94. doi: 10.1111/j.1399-0004.2010.01488.x. Clin Genet. 2011. PMID: 20681991

3

Complete virilization in congenital adrenal hyperplasia: clinical course, medical management and disease-related complications.

Woelfle J, Hoepffner W, Sippell WG, Brämswig JH, Heidemann P, Deiss D, Bökenkamp A, Roth C, Irle U, Wollmann HA, Zachmann M, Kubini K, Albers N. Woelfle J, et al. Clin Endocrinol (Oxf). 2002 Feb;56(2):231-8. doi: 10.1046/j.0300-0664.2001.01463.x. Clin Endocrinol (Oxf). 2002. PMID: 11874415

4

Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome).

Schnittger S, Höfers C, Heidemann P, Beermann F, Hansmann I. Schnittger S, et al. Hum Genet. 1989 Oct;83(3):239-44. doi: 10.1007/BF00285164. Hum Genet. 1989. PMID: 2793167

5

Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY.

Vogt PH, Besikoglu B, Bettendorf M, Frank-Herrmann P, Zimmer J, Bender U, Knauer-Fischer S, Choukair D, Sinn P, Lau YC, Heidemann PH, Strowitzki T. Vogt PH, et al. Among authors: heidemann ph. Hum Reprod. 2019 Apr 1;34(4):770-779. doi: 10.1093/humrep/dez004. Hum Reprod. 2019. PMID: 30753444

6

Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46,XY cells: distinct gender phenotypes and germ cell tumour risks^§.

Vogt PH, Besikoglu B, Bettendorf M, Frank-Herrmann P, Zimmer J, Bender U, Knauer-Fischer S, Choukair D, Sinn P, Doerr HG, Woelfle J, Heidemann PH, Lau YC, Strowitzki T. Vogt PH, et al. Among authors: heidemann ph. Syst Biol Reprod Med. 2022 Aug;68(4):247-257. doi: 10.1080/19396368.2022.2057258. Epub 2022 Apr 28. Syst Biol Reprod Med. 2022. PMID: 35481403 Free PMC article.

7

Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.

Hansske B, Thiel C, Lübke T, Hasilik M, Höning S, Peters V, Heidemann PH, Hoffmann GF, Berger EG, von Figura K, Körner C. Hansske B, et al. Among authors: heidemann ph. J Clin Invest. 2002 Mar;109(6):725-33. doi: 10.1172/JCI14010. J Clin Invest. 2002. PMID: 11901181 Free PMC article.

8

Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy.

Peters V, Penzien JM, Reiter G, Körner C, Hackler R, Assmann B, Fang J, Schaefer JR, Hoffmann GF, Heidemann PH. Peters V, et al. Among authors: heidemann ph. Neuropediatrics. 2002 Feb;33(1):27-32. doi: 10.1055/s-2002-23597. Neuropediatrics. 2002. PMID: 11930273

9

Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.

Müller E, Dunstheimer D, Klammt J, Friebe D, Kiess W, Kratzsch J, Kruis T, Laue S, Pfäffle R, Wallborn T, Heidemann PH. Müller E, et al. Among authors: heidemann ph. PLoS One. 2012;7(5):e38220. doi: 10.1371/journal.pone.0038220. Epub 2012 May 31. PLoS One. 2012. PMID: 22693602 Free PMC article.

10

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.

Gambineri E, Perroni L, Passerini L, Bianchi L, Doglioni C, Meschi F, Bonfanti R, Sznajer Y, Tommasini A, Lawitschka A, Junker A, Dunstheimer D, Heidemann PH, Cazzola G, Cipolli M, Friedrich W, Janic D, Azzi N, Richmond E, Vignola S, Barabino A, Chiumello G, Azzari C, Roncarolo MG, Bacchetta R. Gambineri E, et al. Among authors: heidemann ph. J Allergy Clin Immunol. 2008 Dec;122(6):1105-1112.e1. doi: 10.1016/j.jaci.2008.09.027. Epub 2008 Oct 25. J Allergy Clin Immunol. 2008. PMID: 18951619

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