Hertz JM - Search Results

1

Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.

McGinniss MJ, Kazazian HH Jr, Stetten G, Petersen MB, Boman H, Engel E, Greenberg F, Hertz JM, Johnson A, Laca Z, et al. McGinniss MJ, et al. Among authors: hertz jm. Am J Hum Genet. 1992 Jan;50(1):15-28. Am J Hum Genet. 1992. PMID: 1346075 Free PMC article.

2

Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.

Brandt CA, Hertz JM, Petersen MB, Vogel F, Noer H, Mikkelsen M. Brandt CA, et al. Among authors: hertz jm. J Med Genet. 1992 Oct;29(10):704-8. doi: 10.1136/jmg.29.10.704. J Med Genet. 1992. PMID: 1433229 Free PMC article. Review.

3

Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases.

Bugge M, deLozier-Blanchet C, Bak M, Brandt CA, Hertz JM, Nielsen JB, Duprez L, Petersen MB. Bugge M, et al. Among authors: hertz jm. Am J Med Genet A. 2005 Jan 30;132A(3):310-3. doi: 10.1002/ajmg.a.30474. Am J Med Genet A. 2005. PMID: 15690377 Review.

4

Non-disjunction of chromosome 18.

Bugge M, Collins A, Petersen MB, Fisher J, Brandt C, Hertz JM, Tranebjaerg L, de Lozier-Blanchet C, Nicolaides P, Brøndum-Nielsen K, Morton N, Mikkelsen M. Bugge M, et al. Among authors: hertz jm. Hum Mol Genet. 1998 Apr;7(4):661-9. doi: 10.1093/hmg/7.4.661. Hum Mol Genet. 1998. PMID: 9499419

5

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N. Hertz JM, et al. Hum Mutat. 2001 Aug;18(2):141-8. doi: 10.1002/humu.1163. Hum Mutat. 2001. PMID: 11462238 Free article.

6

Non-disjunction of chromosome 13.

Bugge M, Collins A, Hertz JM, Eiberg H, Lundsteen C, Brandt CA, Bak M, Hansen C, Delozier CD, Lespinasse J, Tranebjaerg L, Hahnemann JM, Rasmussen K, Bruun-Petersen G, Duprez L, Tommerup N, Petersen MB. Bugge M, et al. Among authors: hertz jm. Hum Mol Genet. 2007 Aug 15;16(16):2004-10. doi: 10.1093/hmg/ddm148. Epub 2007 Jun 21. Hum Mol Genet. 2007. PMID: 17584770

7

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.

Karadima G, Bugge M, Nicolaidis P, Vassilopoulos D, Avramopoulos D, Grigoriadou M, Albrecht B, Passarge E, Annerén G, Blennow E, Clausen N, Galla-Voumvouraki A, Tsezou A, Kitsiou-Tzeli S, Hahnemann JM, Hertz JM, Houge G, Kuklík M, Macek M, Lacombe D, Miller K, Moncla A, López Pajares I, Patsalis PC, Petersen MB, et al. Karadima G, et al. Among authors: hertz jm. Eur J Hum Genet. 1998 Sep-Oct;6(5):432-8. doi: 10.1038/sj.ejhg.5200212. Eur J Hum Genet. 1998. PMID: 9801867

8

Apolipoprotein E alleles in mothers of trisomy 18 conceptuses.

Hansen C, Bugge M, Brandt CA, Hertz JM, Tranebjaerg L, Mikkelsen M, Petersen MB. Hansen C, et al. Among authors: hertz jm. Clin Genet. 1998 Apr;53(4):321-2. doi: 10.1111/j.1399-0004.1998.tb02707.x. Clin Genet. 1998. PMID: 9650776 No abstract available.

9

Pericentric inversion of chromosome 12; a three family study.

Haagerup A, Hertz JM. Haagerup A, et al. Among authors: hertz jm. Hum Genet. 1992 May;89(3):292-4. doi: 10.1007/BF00220542. Hum Genet. 1992. PMID: 1601419

10

Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.

Rasmussen M, Sunde L, Nielsen ML, Ramsing M, Petersen A, Hjortshøj TD, Olsen TE, Tabor A, Hertz JM, Johnsen I, Sperling L, Petersen OB, Jensen UB, Møller FG, Petersen MB, Lildballe DL. Rasmussen M, et al. Among authors: hertz jm. Clin Genet. 2018 Apr;93(4):860-869. doi: 10.1111/cge.13185. Epub 2018 Feb 23. Clin Genet. 2018. PMID: 29194579

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