Vujic M - Search Results

1

Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients.

Erlandson A, Samuelsson L, Hagberg B, Kyllerman M, Vujic M, Wahlström J. Erlandson A, et al. Among authors: vujic m. Genet Test. 2003 Winter;7(4):329-32. doi: 10.1089/109065703322783707. Genet Test. 2003. PMID: 15000811

2

Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p.

Wahlström J, Uller A, Johannesson T, Holmqvist D, Darnfors C, Vujic M, Tonnby B, Hagberg B, Martinsson T. Wahlström J, et al. Among authors: vujic m. J Med Genet. 1999 Apr;36(4):343-5. J Med Genet. 1999. PMID: 10227408 Free PMC article.

3

Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes.

Vujic M, Bergman A, Romanus B, Wahlström J, Martinsson T. Vujic M, et al. Int J Mol Med. 2004 Jan;13(1):47-52. Int J Mol Med. 2004. PMID: 14654969

4

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden.

Oskarsdóttir S, Vujic M, Fasth A. Oskarsdóttir S, et al. Among authors: vujic m. Arch Dis Child. 2004 Feb;89(2):148-51. doi: 10.1136/adc.2003.026880. Arch Dis Child. 2004. PMID: 14736631 Free PMC article.

5

Subtelomeric rearrangements detected in patients with idiopathic mental retardation.

Anderlid BM, Schoumans J, Annerén G, Sahlén S, Kyllerman M, Vujic M, Hagberg B, Blennow E, Nordenskjöld M. Anderlid BM, et al. Among authors: vujic m. Am J Med Genet. 2002 Feb 1;107(4):275-84. doi: 10.1002/ajmg.10029. Am J Med Genet. 2002. PMID: 11840483

6

Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization.

Blennow E, Bui TH, Kristoffersson U, Vujic M, Annerén G, Holmberg E, Nordenskjöld M. Blennow E, et al. Among authors: vujic m. Prenat Diagn. 1994 Nov;14(11):1019-28. doi: 10.1002/pd.1970141103. Prenat Diagn. 1994. PMID: 7877949

7

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

Vujic M, Heyer CM, Ars E, Hopp K, Markoff A, Orndal C, Rudenhed B, Nasr SH, Torres VE, Torra R, Bogdanova N, Harris PC. Vujic M, et al. J Am Soc Nephrol. 2010 Jul;21(7):1097-102. doi: 10.1681/ASN.2009101070. Epub 2010 Jun 17. J Am Soc Nephrol. 2010. PMID: 20558538 Free PMC article.

8

Localization of the human tripeptidyl peptidase II gene (TPP2) to 13q32-q33 by nonradioactive in situ hybridization and somatic cell hybrids.

Martinsson T, Vujic M, Tomkinson B. Martinsson T, et al. Among authors: vujic m. Genomics. 1993 Aug;17(2):493-5. doi: 10.1006/geno.1993.1353. Genomics. 1993. PMID: 8406500

9

Maternal origin of inv dup(15) chromosomes in infantile autism.

Martinsson T, Johannesson T, Vujic M, Sjöstedt A, Steffenburg S, Gillberg C, Wahlström J. Martinsson T, et al. Among authors: vujic m. Eur Child Adolesc Psychiatry. 1996 Dec;5(4):185-92. doi: 10.1007/BF00538845. Eur Child Adolesc Psychiatry. 1996. PMID: 8989557

10

Identification of the gene responsible for Best macular dystrophy.

Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C. Petrukhin K, et al. Among authors: vujic m. Nat Genet. 1998 Jul;19(3):241-7. doi: 10.1038/915. Nat Genet. 1998. PMID: 9662395

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