Brøndum-Nielsen K - Search Results

1

High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.

Gasparini P, Rabionet R, Barbujani G, Melçhionda S, Petersen M, Brøndum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X. Gasparini P, et al. Eur J Hum Genet. 2000 Jan;8(1):19-23. doi: 10.1038/sj.ejhg.5200406. Eur J Hum Genet. 2000. PMID: 10713883

2

Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness.

Antoniadi T, Grønskov K, Sand A, Pampanos A, Brøndum-Nielsen K, Petersen MB. Antoniadi T, et al. Hum Mutat. 2000;16(1):7-12. doi: 10.1002/1098-1004(200007)16:1<7::AID-HUMU2>3.0.CO;2-A. Hum Mutat. 2000. PMID: 10874298

3

Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect.

Schulze A, Hansen C, Baekgaard P, Blichfeldt S, Petersen MB, Tommerup N, Brøndum-Nielsen K. Schulze A, et al. Acta Paediatr. 1997 Aug;86(8):906-10. doi: 10.1111/j.1651-2227.1997.tb08622.x. Acta Paediatr. 1997. PMID: 9307178

4

Prevalence of GJB2 mutations in prelingual deafness in the Greek population.

Pampanos A, Economides J, Iliadou V, Neou P, Leotsakos P, Voyiatzis N, Eleftheriades N, Tsakanikos M, Antoniadi T, Hatzaki A, Konstantopoulou I, Yannoukakos D, Gronskov K, Brondum-Nielsen K, Grigoriadou M, Gyftodimou J, Iliades T, Skevas A, Petersen MB. Pampanos A, et al. Int J Pediatr Otorhinolaryngol. 2002 Sep 2;65(2):101-8. doi: 10.1016/s0165-5876(02)00177-5. Int J Pediatr Otorhinolaryngol. 2002. PMID: 12176179

5

Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county.

Petersen MB, Brøndum-Nielsen K, Hansen LK, Wulff K. Petersen MB, et al. Am J Med Genet. 1995 Jun 19;60(3):261-2. doi: 10.1002/ajmg.1320600317. Am J Med Genet. 1995. PMID: 7573182 No abstract available.

6

Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions.

Gerdes AM, Petersen MB, Schrøder HD, Wulff K, Brøndum-Nielsen K. Gerdes AM, et al. Clin Genet. 1994 Jan;45(1):11-6. doi: 10.1111/j.1399-0004.1994.tb03982.x. Clin Genet. 1994. PMID: 7908614

7

Tetrasomy 18p de novo: parental origin and different mechanisms of formation.

Bugge M, Blennow E, Friedrich U, Petersen MB, Pedeutour F, Tsezou A, Orum A, Hermann S, Lyngbye T, Sarri C, Avramopoulos D, Kitsiou S, Lambert JC, Guzda M, Tommerup N, Brøndum-Nielsen K. Bugge M, et al. Eur J Hum Genet. 1996;4(3):160-7. doi: 10.1159/000472190. Eur J Hum Genet. 1996. PMID: 8840116

8

Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.

Brøndum-Nielsen K, Beck B, Gyftodimou J, Hørlyk H, Liljenberg U, Petersen MB, Pedersen W, Petersen MB, Sand A, Skovby F, Stafanger G, Zetterqvist P, Tommerup N. Brøndum-Nielsen K, et al. Hum Genet. 1997 Jan;99(1):56-61. doi: 10.1007/s004390050311. Hum Genet. 1997. PMID: 9003495

9

Non-disjunction of chromosome 18.

Bugge M, Collins A, Petersen MB, Fisher J, Brandt C, Hertz JM, Tranebjaerg L, de Lozier-Blanchet C, Nicolaides P, Brøndum-Nielsen K, Morton N, Mikkelsen M. Bugge M, et al. Hum Mol Genet. 1998 Apr;7(4):661-9. doi: 10.1093/hmg/7.4.661. Hum Mol Genet. 1998. PMID: 9499419

10

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination.

Robinson WP, Kuchinka BD, Bernasconi F, Petersen MB, Schulze A, Brondum-Nielsen K, Christian SL, Ledbetter DH, Schinzel AA, Horsthemke B, Schuffenhauer S, Michaelis RC, Langlois S, Hassold TJ. Robinson WP, et al. Hum Mol Genet. 1998 Jun;7(6):1011-9. doi: 10.1093/hmg/7.6.1011. Hum Mol Genet. 1998. PMID: 9580665 Free article.

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