Dumanski JP - Search Results

1

Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.

Wong AC, Ning Y, Flint J, Clark K, Dumanski JP, Ledbetter DH, McDermid HE. Wong AC, et al. Among authors: dumanski jp. Am J Hum Genet. 1997 Jan;60(1):113-20. Am J Hum Genet. 1997. PMID: 8981954 Free PMC article.

2

Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.

Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson A, Eklöf O, Enkvist O, Tordai P, Fosdal I, Myhre AG, Westphal O, Nilsson NO, Elfving M, Ellis I, Anderlid BM, Fransson I, Tapia-Paez I, Nordenskjöld M, Hagenäs L, Dumanski JP. Grigelioniene G, et al. Among authors: dumanski jp. Hum Genet. 2001 Nov;109(5):551-8. doi: 10.1007/s00439-001-0609-y. Epub 2001 Oct 19. Hum Genet. 2001. PMID: 11735031

3

Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11.

Kedra D, Peyrard M, Fransson I, Collins JE, Dunham I, Roe BA, Dumanski JP. Kedra D, et al. Among authors: dumanski jp. Hum Mol Genet. 1996 May;5(5):625-31. doi: 10.1093/hmg/5.5.625. Hum Mol Genet. 1996. PMID: 8733129

4

Characterization of the human synaptogyrin gene family.

Kedra D, Pan HQ, Seroussi E, Fransson I, Guilbaud C, Collins JE, Dunham I, Blennow E, Roe BA, Piehl F, Dumanski JP. Kedra D, et al. Among authors: dumanski jp. Hum Genet. 1998 Aug;103(2):131-41. doi: 10.1007/s004390050795. Hum Genet. 1998. PMID: 9760194

5

Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome.

Kurahashi H, Akagi K, Karakawa K, Nakamura T, Dumanski JP, Sano T, Okada S, Takai S, Nishisho I. Kurahashi H, et al. Among authors: dumanski jp. Hum Genet. 1994 Mar;93(3):248-54. doi: 10.1007/BF00212017. Hum Genet. 1994. PMID: 7907312

6

The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers.

Tapia-Páez I, Kost-Alimova M, Hu P, Roe BA, Blennow E, Fedorova L, Imreh S, Dumanski JP. Tapia-Páez I, et al. Among authors: dumanski jp. Hum Genet. 2001 Aug;109(2):167-77. doi: 10.1007/s004390100560. Hum Genet. 2001. PMID: 11511922

7

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH.

Bruder CE, Hirvelä C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, Evans DG, Wallace AJ, Baser ME, Zucman-Rossi J, Hergersberg M, Boltshauser E, Papi L, Rouleau GA, Poptodorov G, Jordanova A, Rask-Andersen H, Kluwe L, Mautner V, Sainio M, Hung G, Mathiesen T, Möller C, Pulst SM, Harder H, Heiberg A, Honda M, Niimura M, Sahlén S, Blennow E, Albertson DG, Pinkel D, Dumanski JP. Bruder CE, et al. Among authors: dumanski jp. Hum Mol Genet. 2001 Feb 1;10(3):271-82. doi: 10.1093/hmg/10.3.271. Hum Mol Genet. 2001. PMID: 11159946

8

Fine mapping of the constitutional translocation t(11;22)(q23;q11).

Tapia-Páez I, O'Brien KP, Kost-Alimova M, Sahlén S, Kedra D, Bruder CE, Andersson B, Roe BA, Hu P, Imreh S, Blennow E, Dumanski JP. Tapia-Páez I, et al. Among authors: dumanski jp. Hum Genet. 2000 May;106(5):506-16. doi: 10.1007/s004390000287. Hum Genet. 2000. PMID: 10914680

9

A novel gene containing LIM domains (LIMD1) is located within the common eliminated region 1 (C3CER1) in 3p21.3.

Kiss H, Kedra D, Yang Y, Kost-Alimova M, Kiss C, O'Brien KP, Fransson I, Klein G, Imreh S, Dumanski JP. Kiss H, et al. Among authors: dumanski jp. Hum Genet. 1999 Dec;105(6):552-9. doi: 10.1007/s004399900188. Hum Genet. 1999. PMID: 10647888

10

A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene.

Bruder CE, Ichimura K, Tingby O, Hirakawa K, Komatsuzaki A, Tamura A, Yuasa Y, Collins VP, Dumanski JP. Bruder CE, et al. Among authors: dumanski jp. Hum Genet. 1999 May;104(5):418-24. doi: 10.1007/s004390050978. Hum Genet. 1999. PMID: 10394935

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