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Items: 16

1.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM.

Hum Mutat. 2019 Jun 17. doi: 10.1002/humu.23841. [Epub ahead of print]

PMID:
31206972
2.

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.

Beygo J, Küchler A, Gillessen-Kaesbach G, Albrecht B, Eckle J, Eggermann T, Gellhaus A, Kanber D, Kordaß U, Lüdecke HJ, Purmann S, Rossier E, van de Nes J, van der Werf IM, Wenzel M, Wieczorek D, Horsthemke B, Buiting K.

Eur J Hum Genet. 2017 Aug;25(8):935-945. doi: 10.1038/ejhg.2017.91. Epub 2017 Jun 21.

3.

Correlation between severity of clinical signs and transcranial magnetic motor evoked potentials in dogs with intervertebral disc herniation.

Amendt HL, Siedenburg JS, Steffensen N, Kordass U, Rohn K, Tipold A, Stein VM.

Vet J. 2017 Mar;221:48-53. doi: 10.1016/j.tvjl.2017.01.015. Epub 2017 Feb 1.

PMID:
28283080
4.
5.

A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype.

Kordaß U, Schröder C, Elbracht M, Soellner L, Eggermann T.

Am J Med Genet A. 2015 May;167A(5):1121-4. doi: 10.1002/ajmg.a.36972. Epub 2015 Mar 28.

PMID:
25820550
6.

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

Lorenz S, Petersen C, Kordaß U, Seidel H, Zenker M, Kutsche K.

Eur J Med Genet. 2012 Nov;55(11):615-9. doi: 10.1016/j.ejmg.2012.07.007. Epub 2012 Aug 7.

PMID:
22926243
7.

Tetrasomy 9p mosaicism associated with a normal phenotype in two cases.

Papoulidis I, Kontodiou M, Tzimina M, Saitis I, Hamid AB, Klein E, Kosyakova N, Kordass U, Kunz J, Siomou E, Nicolaides P, Orru S, Thomaidis L, Liehr T, Petersen MB, Manolakos E.

Cytogenet Genome Res. 2012;136(4):237-41. doi: 10.1159/000337520. Epub 2012 Apr 5. Review.

8.

Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation.

Begemann M, Spengler S, Kordass U, Schröder C, Eggermann T.

Am J Med Genet A. 2012 Feb;158A(2):423-8. doi: 10.1002/ajmg.a.34412. Epub 2012 Jan 13.

PMID:
22246686
9.

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S.

J Med Genet. 2012 Feb;49(2):119-25. doi: 10.1136/jmedgenet-2011-100409. Epub 2011 Dec 6.

PMID:
22147889
10.

Genetic and epigenetic findings in Silver-Russell syndrome.

Eggermann T, Begemann M, Spengler S, Schröder C, Kordass U, Binder G.

Pediatr Endocrinol Rev. 2010 Dec;8(2):86-93. Review.

PMID:
21150838
11.

Idiopathic late hemorrhagic disease of newborn and conjugated hyperbilirubinemia.

von Kries R, Kordass U, Shearer M, Göbel U.

J Pediatr Gastroenterol Nutr. 1993 Apr;16(3):328-30. No abstract available.

PMID:
8492265
12.
13.

[Therapy of hyperammonemia in carbamyl phosphate synthase deficiency with peritoneal dialysis and venovenous hemofiltration].

Lettgen B, Bonzel KE, Colombo JP, Fuchs B, Kordass U, Wendel K, Rascher W.

Monatsschr Kinderheilkd. 1991 Sep;139(9):612-7. German.

PMID:
1745252
14.

[Epidermolysis bullosa atrophicans gravis. Report of a therapeutic trial with dapsone].

Krähe J, Galal O, Kordass U, Bornemann P.

Monatsschr Kinderheilkd. 1988 Mar;136(3):140-2. German.

PMID:
3374498
15.

3-Methylhistidine/creatinine ratio in urine from low-birth-weight infants. Clinical approach.

Hülsemann J, Kordass U, Sander G, Schmidt E, Schöch G.

Ann Nutr Metab. 1988;32(1):44-51.

PMID:
3355111
16.

3-Methylhistidine/creatinine ratio in urine from low-birth-weight infants. Statistical analysis.

Hülsemann J, Wember T, Kordass U, Sander G, Schmidt E, Schöch G.

Ann Nutr Metab. 1988;32(1):38-43.

PMID:
3355110

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