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Page 1
Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.
Vermeulen C, Geeven G, de Wit E, Verstegen MJAM, Jansen RPM, van Kranenburg M, de Bruijn E, Pulit SL, Kruisselbrink E, Shahsavari Z, Omrani D, Zeinali F, Najmabadi H, Katsila T, Vrettou C, Patrinos GP, Traeger-Synodinos J, Splinter E, Beekman JM, Kheradmand Kia S, Te Meerman GJ, Ploos van Amstel HK, de Laat W. Vermeulen C, et al. Among authors: najmabadi h. Am J Hum Genet. 2017 Sep 7;101(3):326-339. doi: 10.1016/j.ajhg.2017.07.012. Epub 2017 Aug 24. Am J Hum Genet. 2017. PMID: 28844486 Free PMC article.
The cypriot and Iranian National Mutation Frequency Databases.
Kleanthous M, Patsalis PC, Drousiotou A, Motazacker M, Christodoulou K, Cariolou M, Baysal E, Khrizi K, Moghimi B, Pourfarzad F, van Baal S, Deltas C, Najmabadi H, Patrinos GP. Kleanthous M, et al. Among authors: najmabadi h. Hum Mutat. 2006 Jun;27(6):598-9. doi: 10.1002/humu.9422. Hum Mutat. 2006. PMID: 16705699
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Najmabadi H, Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, Grüters A, Lenzner S, Jensen LR, Rüschendorf F, Kuss AW, Ropers HH. Najmabadi H, et al. Hum Genet. 2007 Mar;121(1):43-8. doi: 10.1007/s00439-006-0292-0. Epub 2006 Nov 21. Hum Genet. 2007. PMID: 17120046
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Kahrizi K, Hu CH, Garshasbi M, Abedini SS, Ghadami S, Kariminejad R, Ullmann R, Chen W, Ropers HH, Kuss AW, Najmabadi H, Tzschach A. Kahrizi K, et al. Among authors: najmabadi h. Eur J Hum Genet. 2011 Jan;19(1):115-7. doi: 10.1038/ejhg.2010.132. Epub 2010 Aug 11. Eur J Hum Genet. 2011. PMID: 20700148 Free PMC article.
330 results