Disteche CM - Search Results

1

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.

Dines JN, Liu YJ, Neufeld-Kaiser W, Sawyer T, Ishak GE, Tully HM, Racobaldo M, Sanchez-Valle A, Disteche CM, Juusola J, Torti E, McWalter K, Doherty D, Dipple KM. Dines JN, et al. Among authors: disteche cm. Am J Med Genet A. 2019 Sep;179(9):1783-1790. doi: 10.1002/ajmg.a.61281. Epub 2019 Jul 11. Am J Med Genet A. 2019. PMID: 31294511

2

Duplication (6q) syndrome diagnosed in utero.

Uhrich S, FitzSimmons J, Easterling TR, Mack L, Disteche CM. Uhrich S, et al. Among authors: disteche cm. Am J Med Genet. 1991 Dec 1;41(3):282-3. doi: 10.1002/ajmg.1320410304. Am J Med Genet. 1991. PMID: 1789280

3

Sex chromosome aneuploidies in 2020-The state of care and research in the world.

Gravholt CH, Tartaglia N, Disteche C. Gravholt CH, et al. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):197-201. doi: 10.1002/ajmg.c.31808. Epub 2020 Jun 4. Am J Med Genet C Semin Med Genet. 2020. PMID: 32496026 Free PMC article. No abstract available.

4

Fetal t(5p;21q) misdiagnosed as monosomy 21: a plea for in situ hybridization studies.

Gill P, Uhrich S, Disteche C, Cheng E. Gill P, et al. Am J Med Genet. 1994 Oct 1;52(4):416-8. doi: 10.1002/ajmg.1320520405. Am J Med Genet. 1994. PMID: 7747753

5

Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome.

Tsuchiya K, Reijo R, Page DC, Disteche CM. Tsuchiya K, et al. Among authors: disteche cm. Am J Hum Genet. 1995 Dec;57(6):1400-7. Am J Hum Genet. 1995. PMID: 8533770 Free PMC article.

6

Phenotype and X inactivation in 45,X/46,X,r(X) cases.

Leppig KA, Sybert VP, Ross JL, Cunniff C, Trejo T, Raskind WH, Disteche CM. Leppig KA, et al. Among authors: disteche cm. Am J Med Genet A. 2004 Jul 30;128A(3):276-84. doi: 10.1002/ajmg.a.30002. Am J Med Genet A. 2004. PMID: 15216549

7

X-chromosome inactivation and escape.

Disteche CM, Berletch JB. Disteche CM, et al. J Genet. 2015 Dec;94(4):591-9. doi: 10.1007/s12041-015-0574-1. J Genet. 2015. PMID: 26690513 Free PMC article. Review.

8

The human PDGF receptor alpha-subunit gene maps to chromosome 4 in close proximity to c-kit.

Gronwald RG, Adler DA, Kelly JD, Disteche CM, Bowen-Pope DF. Gronwald RG, et al. Among authors: disteche cm. Hum Genet. 1990 Aug;85(3):383-5. doi: 10.1007/BF00206767. Hum Genet. 1990. PMID: 1697560

9

Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe.

Cantrell MA, Bicknell JN, Pagon RA, Page DC, Walker DC, Saal HM, Zinn AB, Disteche CM. Cantrell MA, et al. Among authors: disteche cm. Hum Genet. 1989 Aug;83(1):88-92. doi: 10.1007/BF00274156. Hum Genet. 1989. PMID: 2570023

10

The molecular basis of the human serum paraoxonase activity polymorphism.

Humbert R, Adler DA, Disteche CM, Hassett C, Omiecinski CJ, Furlong CE. Humbert R, et al. Among authors: disteche cm. Nat Genet. 1993 Jan;3(1):73-6. doi: 10.1038/ng0193-73. Nat Genet. 1993. PMID: 8098250

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