Horelli-Kuitunen N - Search Results

1

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.

Grati FR, Molina Gomes D, Ferreira JC, Dupont C, Alesi V, Gouas L, Horelli-Kuitunen N, Choy KW, García-Herrero S, de la Vega AG, Piotrowski K, Genesio R, Queipo G, Malvestiti B, Hervé B, Benzacken B, Novelli A, Vago P, Piippo K, Leung TY, Maggi F, Quibel T, Tabet AC, Simoni G, Vialard F. Grati FR, et al. Among authors: horelli kuitunen n. Prenat Diagn. 2015 Aug;35(8):801-9. doi: 10.1002/pd.4613. Epub 2015 Jun 24. Prenat Diagn. 2015. PMID: 25962607

2

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.

Dupont C, Grati FR, Choy KW, Jaillard S, Toutain J, Maurin ML, Martínez-Conejero JA, Beneteau C, Coussement A, Molina-Gomes D, Horelli-Kuitunen N, Aboura A, Tabet AC, Besseau-Ayasse J, Bessieres-Grattagliano B, Simoni G, Ayala G, Benzacken B, Vialard F. Dupont C, et al. Among authors: horelli kuitunen n. Prenat Diagn. 2015 Jan;35(1):35-43. doi: 10.1002/pd.4478. Epub 2014 Sep 16. Prenat Diagn. 2015. PMID: 25118001

3

High-resolution fluorescence in situ hybridization: a new approach in genome mapping.

Palotie A, Heiskanen M, Laan M, Horelli-Kuitunen N. Palotie A, et al. Ann Med. 1996 Apr;28(2):101-6. doi: 10.3109/07853899609092933. Ann Med. 1996. PMID: 8732637 Review.

4

Prenatal diagnosis of 17p13.1p13.3 duplication.

Kiiski K, Roovere T, Zordania R, von Koskull H, Horelli-Kuitunen N. Kiiski K, et al. Among authors: horelli kuitunen n. Case Rep Med. 2012;2012:840538. doi: 10.1155/2012/840538. Epub 2012 Oct 17. Case Rep Med. 2012. PMID: 23118768 Free PMC article.

5

Genetic aberrations in sporadic and neurofibromatosis 2 (NF2)-associated schwannomas studied by comparative genomic hybridization (CGH).

Antinheimo J, Sallinen SL, Sallinen P, Haapasalo H, Helin H, Horelli-Kuitunen N, Wessman M, Sainio M, Jääskeläinen J, Carpén O. Antinheimo J, et al. Acta Neurochir (Wien). 2000;142(10):1099-104; discussion 1104-5. doi: 10.1007/s007010070036. Acta Neurochir (Wien). 2000. PMID: 11129530

6

High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.

Paavola P, Avela K, Horelli-Kuitunen N, Bärlund M, Kallioniemi A, Idänheimo N, Kyttälä M, de la Chapelle A, Palotie A, Lehesjoki AE, Peltonen L. Paavola P, et al. Genome Res. 1999 Mar;9(3):267-76. Genome Res. 1999. PMID: 10077533 Free PMC article.

7

Fetal trisomy 13 and 21 mosaicism diagnosed at amniocentesis: a case report.

Velthut A, Peters M, Roovere T, Kilusk G, Horelli-Kuitunen N, Sois M, Salumets A. Velthut A, et al. Among authors: horelli kuitunen n. Prenat Diagn. 2009 Oct;29(10):995-7. doi: 10.1002/pd.2322. Prenat Diagn. 2009. PMID: 19565618 No abstract available.

8

High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH.

Aaltonen J, Horelli-Kuitunen N, Fan JB, Björses P, Perheentupa J, Myers R, Palotie A, Peltonen L. Aaltonen J, et al. Genome Res. 1997 Aug;7(8):820-9. doi: 10.1101/gr.7.8.820. Genome Res. 1997. PMID: 9267805 Free article.

9

Mapping ESTs by fiber-FISH.

Horelli-Kuitunen N, Aaltonen J, Yaspo ML, Eeva M, Wessman M, Peltonen L, Palotie A. Horelli-Kuitunen N, et al. Genome Res. 1999 Jan;9(1):62-71. Genome Res. 1999. PMID: 9927485 Free PMC article.

10

Interstitial deletion of bands 11q21-->22.3 in a three-year-old girl defined using fluorescence in situ hybridization on metaphase chromosomes.

Horelli-Kuitunen N, Gahmberg N, Eeva M, Palotie A, Järvelä I. Horelli-Kuitunen N, et al. Am J Med Genet. 1999 Oct 29;86(5):416-9. Am J Med Genet. 1999. PMID: 10508981

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