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312 results
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Mitochondrial deafness.
Kokotas H, Petersen MB, Willems PJ. Kokotas H, et al. Among authors: petersen mb. Clin Genet. 2007 May;71(5):379-91. doi: 10.1111/j.1399-0004.2007.00800.x. Clin Genet. 2007. PMID: 17489842 Review.
Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece.
Iliadou V, Eleftheriades N, Metaxas AS, Skevas A, Kiratzidis T, Pampanos A, Voyiatzis N, Grigoriadou M, Petersen MB, Iliades T. Iliadou V, et al. Among authors: petersen mb. Eur Arch Otorhinolaryngol. 2004 May;261(5):259-61. doi: 10.1007/s00405-003-0679-7. Epub 2003 Sep 30. Eur Arch Otorhinolaryngol. 2004. PMID: 15138772
Non-syndromic, autosomal-recessive deafness.
Petersen MB, Willems PJ. Petersen MB, et al. Clin Genet. 2006 May;69(5):371-92. doi: 10.1111/j.1399-0004.2006.00613.x. Clin Genet. 2006. PMID: 16650073 Review.
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. Among authors: petersen mb. 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
Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation.
Antoniadi T, Pampanos A, Petersen MB. Antoniadi T, et al. Among authors: petersen mb. Prenat Diagn. 2001 Jan;21(1):10-3. doi: 10.1002/1097-0223(200101)21:1<10::aid-pd968>3.0.co;2-h. Prenat Diagn. 2001. PMID: 11180233
BRCA1 mutation analysis in breast/ovarian cancer families from Greece.
Konstantopoulou I, Kroupis C, Ladopoulou A, Pantazidis A, Boumba D, Lianidou ES, Petersen MB, Florentin L, Chiotellis E, Nounesis G, Efstathiou E, Skarlos D, Tsionou C, Fountzilas G, Yannoukakos D. Konstantopoulou I, et al. Among authors: petersen mb. Hum Mutat. 2000 Sep;16(3):272-3. doi: 10.1002/1098-1004(200009)16:3<272::AID-HUMU17>3.0.CO;2-4. Hum Mutat. 2000. PMID: 10980541
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. Among authors: petersen m. Eur J Hum Genet. 2000 Jan;8(1):19-23. doi: 10.1038/sj.ejhg.5200406. Eur J Hum Genet. 2000. PMID: 10713883
Ophthalmic findings in the Greek isolate of Cohen syndrome.
Douzgou S, Samples JR, Georgoudi N, Petersen MB. Douzgou S, et al. Among authors: petersen mb. Am J Med Genet A. 2011 Mar;155A(3):534-9. doi: 10.1002/ajmg.a.33797. Epub 2011 Feb 22. Am J Med Genet A. 2011. PMID: 21344628
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F. Parri V, et al. Among authors: petersen mb. Eur J Hum Genet. 2010 Oct;18(10):1133-40. doi: 10.1038/ejhg.2010.59. Epub 2010 May 12. Eur J Hum Genet. 2010. PMID: 20461111 Free PMC article.
Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.
Manolakos E, Vetro A, Kefalas K, Thomaidis L, Aperis G, Sotiriou S, Kitsos G, Merkas M, Sifakis S, Papoulidis I, Liehr T, Zuffardi O, Petersen MB. Manolakos E, et al. Among authors: petersen mb. Am J Med Genet A. 2011 Jun;155A(6):1476-82. doi: 10.1002/ajmg.a.33981. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567918 No abstract available.
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