Kuchinka BD - Search Results

1

Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line.

Bruyère H, Rupps R, Kuchinka BD, Friedman JM, Robinson WP. Bruyère H, et al. Among authors: kuchinka bd. Am J Med Genet. 2000 Sep 4;94(1):35-41. doi: 10.1002/1096-8628(20000904)94:1<35::aid-ajmg8>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10982480

2

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination.

Robinson WP, Kuchinka BD, Bernasconi F, Petersen MB, Schulze A, Brondum-Nielsen K, Christian SL, Ledbetter DH, Schinzel AA, Horsthemke B, Schuffenhauer S, Michaelis RC, Langlois S, Hassold TJ. Robinson WP, et al. Among authors: kuchinka bd. Hum Mol Genet. 1998 Jun;7(6):1011-9. doi: 10.1093/hmg/7.6.1011. Hum Mol Genet. 1998. PMID: 9580665 Free article.

3

Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.

Robinson WP, Christian SL, Kuchinka BD, Peñaherrera MS, Das S, Schuffenhauer S, Malcolm S, Schinzel AA, Hassold TJ, Ledbetter DH. Robinson WP, et al. Among authors: kuchinka bd. Clin Genet. 2000 May;57(5):349-58. doi: 10.1034/j.1399-0004.2000.570505.x. Clin Genet. 2000. PMID: 10852369

4

Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy.

Kuchinka BD, Barrett IJ, Moya G, Sánchez JM, Langlois S, Yong SL, Kalousek DK, Robinson WP. Kuchinka BD, et al. Prenat Diagn. 2001 Jan;21(1):36-9. doi: 10.1002/1097-0223(200101)21:1<36::aid-pd979>3.0.co;2-1. Prenat Diagn. 2001. PMID: 11180238

5

Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism.

Robinson WP, McFadden DE, Barrett IJ, Kuchinka B, Peñaherrera MS, Bruyère H, Best RG, Pedreira DA, Langlois S, Kalousek DK. Robinson WP, et al. Prenat Diagn. 2002 Dec;22(12):1076-85. doi: 10.1002/pd.483. Prenat Diagn. 2002. PMID: 12454962

6

Detection of confined placental mosaicism in trisomy 18 conceptions using interphase cytogenetic analysis.

Harrison KJ, Barrett IJ, Lomax BL, Kuchinka BD, Kalousek DK. Harrison KJ, et al. Among authors: kuchinka bd. Hum Genet. 1993 Oct;92(4):353-8. doi: 10.1007/BF01247334. Hum Genet. 1993. PMID: 8225315

7

The utilization of interphase cytogenetic analysis for the detection of mosaicism.

Lomax BL, Kalousek DK, Kuchinka BD, Barrett IJ, Harrison KJ, Safavi H. Lomax BL, et al. Among authors: kuchinka bd. Hum Genet. 1994 Mar;93(3):243-7. doi: 10.1007/BF00212016. Hum Genet. 1994. PMID: 8125474

8

Interphase cytogenetic analysis of single cell suspensions prepared from previously formalin-fixed and paraffin-embedded tissues.

Kuchinka BD, Kalousek DK, Lomax BL, Harrison KJ, Barrett IJ. Kuchinka BD, et al. Mod Pathol. 1995 Feb;8(2):183-6. Mod Pathol. 1995. PMID: 7777481

9

Sanger sequencing solved a cryptic case of severe alpha₁-antitrypsin deficiency.

Zhan SH, Abboud RT, Jung B, Kuchinka B, Ralston D, Casey B, Mattman A. Zhan SH, et al. Clin Biochem. 2012 Apr;45(6):499-501. doi: 10.1016/j.clinbiochem.2012.01.027. Epub 2012 Feb 4. Clin Biochem. 2012. PMID: 22330941

10

Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?

Wessels MW, Kuchinka B, Heydanus R, Smit BJ, Dooijes D, de Krijger RR, Lequin MH, de Jong EM, Husen M, Willems PJ, Casey B. Wessels MW, et al. J Med Genet. 2010 May;47(5):351-5. doi: 10.1136/jmg.2008.060913. J Med Genet. 2010. PMID: 20452998

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