Tranebjaerg L - Search Results

1

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.

Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, Gillessen-Kaesbach G, Fryns JP, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Skovby F, Stefanova M. Kirchhoff M, et al. Among authors: tranebjaerg l. Am J Med Genet A. 2009 May;149A(5):894-905. doi: 10.1002/ajmg.a.32814. Am J Med Genet A. 2009. PMID: 19363806

2

Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients.

Tranebjaerg L, Nielsen KB, Tommerup N, Warburg M, Mikkelsen M. Tranebjaerg L, et al. Am J Med Genet. 1988 Apr;29(4):739-53. doi: 10.1002/ajmg.1320290403. Am J Med Genet. 1988. PMID: 3400720

3

9th international workshop on fragile X syndrome and X-linked mental retardation.

Fryns JP, Borghgraef M, Brown TW, Chelly J, Fisch GS, Hamel B, Hanauer A, Lacombe D, Luo L, MacPherson JN, Mandel JL, Moraine C, Mulley J, Nelson D, Oostra B, Partington M, Ramakers GJ, Ropers HH, Rousseau F, Schwartz C, Steinbach P, Stoll C, Tranebjaerg L, Turner G, Van Bokhoven H, Vianna-Morgante A. Fryns JP, et al. Among authors: tranebjaerg l. Am J Med Genet. 2000 Oct 23;94(5):345-60. doi: 10.1002/1096-8628(20001023)94:5<345::aid-ajmg1>3.0.co;2-z. Am J Med Genet. 2000. PMID: 11050616 No abstract available.

4

Seventh International Workshop on the Fragile X and X-linked Mental Retardation.

Tranebjaerg L, Lubs HA, Borghgraef M, Brown WT, Fisch G, Fryns JP, Hagerman R, Jacobs PA, Mandel JL, Mulley J, Oostra B, Schwartz C, Sherman S, Willard H, Willems P. Tranebjaerg L, et al. Am J Med Genet. 1996 Jul 12;64(1):1-14. doi: 10.1002/(SICI)1096-8628(19960712)64:1<1::AID-AJMG1>3.0.CO;2-Z. Am J Med Genet. 1996. PMID: 8826442 No abstract available.

5

Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy.

Schwartz M, Sørensen N, Hansen FJ, Hertz JM, Nørby S, Tranebjaerg L, Skovby F. Schwartz M, et al. Among authors: tranebjaerg l. Hum Mol Genet. 1997 Jan;6(1):99-104. doi: 10.1093/hmg/6.1.99. Hum Mol Genet. 1997. PMID: 9002676

6

Phenotypic subregions within the split-hand/foot malformation 1 locus.

Rasmussen MB, Kreiborg S, Jensen P, Bak M, Mang Y, Lodahl M, Budtz-Jørgensen E, Tommerup N, Tranebjærg L, Rendtorff ND. Rasmussen MB, et al. Among authors: tranebjaerg l. Hum Genet. 2016 Mar;135(3):345-57. doi: 10.1007/s00439-016-1635-0. Epub 2016 Feb 2. Hum Genet. 2016. PMID: 26839112

7

Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene.

Schwartz M, Békássy A, Donnér M, Hertel T, Hreidarson S, Kerndrup G, Stormorken H, Stokland T, Tranebjaerg L, Orstavik KH, Skovby F. Schwartz M, et al. Among authors: tranebjaerg l. Thromb Haemost. 1996 Apr;75(4):546-50. Thromb Haemost. 1996. PMID: 8743175

8

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.

Husu E, Hove HD, Farholt S, Bille M, Tranebjærg L, Vogel I, Kreiborg S. Husu E, et al. Among authors: tranebjaerg l. Clin Genet. 2013 Feb;83(2):125-34. doi: 10.1111/j.1399-0004.2012.01884.x. Epub 2012 Apr 30. Clin Genet. 2013. PMID: 22462537

9

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.

Schönewolf-Greulich B, Ronan A, Ravn K, Baekgaard P, Lodahl M, Nielsen K, Rendtorff ND, Tranebjaerg L, Brøndum-Nielsen K, Tümer Z. Schönewolf-Greulich B, et al. Among authors: tranebjaerg l. Am J Med Genet A. 2011 Dec;155A(12):2964-9. doi: 10.1002/ajmg.a.34302. Epub 2011 Nov 3. Am J Med Genet A. 2011. PMID: 22052739

10

Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.

Petersen MB, Tranebjaerg L, McCormick MK, Michelsen N, Mikkelsen M, Antonarakis SE. Petersen MB, et al. Among authors: tranebjaerg l. Am J Med Genet Suppl. 1990;7:104-9. doi: 10.1002/ajmg.1320370721. Am J Med Genet Suppl. 1990. PMID: 2149934

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