Curtis MA - Search Results

1

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al. Marsh DJ, et al. Among authors: curtis ma. Hum Mol Genet. 1999 Aug;8(8):1461-72. doi: 10.1093/hmg/8.8.1461. Hum Mol Genet. 1999. PMID: 10400993

2

Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.

Quarrell OW, Snell RG, Curtis MA, Roberts SH, Harper PS, Shaw DJ. Quarrell OW, et al. Among authors: curtis ma. J Med Genet. 1991 Apr;28(4):256-9. doi: 10.1136/jmg.28.4.256. J Med Genet. 1991. PMID: 1856831 Free PMC article.

3

Interstitial deletion, del(4)(q33q35.1), in a mother and two children.

Curtis MA, Smith RA, Sibert J, Hughes HE. Curtis MA, et al. J Med Genet. 1989 Oct;26(10):652-4. doi: 10.1136/jmg.26.10.652. J Med Genet. 1989. PMID: 2479746 Free PMC article.

4

X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq.

Carpenter NJ, Qu Y, Curtis M, Patil SR. Carpenter NJ, et al. Am J Med Genet. 1999 Jul 30;85(3):230-5. doi: 10.1002/(sici)1096-8628(19990730)85:3<230::aid-ajmg9>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10398234

5

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Annunen S, et al. Among authors: curtis ma. Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585. Am J Hum Genet. 1999. PMID: 10486316 Free PMC article.

6

Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.

Lennon PA, Cooper ML, Curtis MA, Lim C, Ou Z, Patel A, Cheung SW, Bacino CA. Lennon PA, et al. Among authors: curtis ma. Am J Med Genet A. 2006 Jun 1;140(11):1156-63. doi: 10.1002/ajmg.a.31243. Am J Med Genet A. 2006. PMID: 16688748

7

Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a child with multiple congenital abnormalities.

Curtis MA, Quarrell OW, Cobon AM, Cummins M. Curtis MA, et al. J Med Genet. 1990 Jan;27(1):64-5. doi: 10.1136/jmg.27.1.64. J Med Genet. 1990. PMID: 2308158 Free PMC article. No abstract available.

8

Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities.

Cunniff C, Curtis M, Hassed SJ, Hoyme HE. Cunniff C, et al. Am J Med Genet. 1998 Jan 6;75(1):52-4. doi: 10.1002/(sici)1096-8628(19980106)75:1<52::aid-ajmg11>3.0.co;2-r. Am J Med Genet. 1998. PMID: 9450857

9

Carpenter-Waziri syndrome results from a mutation in XNP.

Abidi F, Schwartz CE, Carpenter NJ, Villard L, Fontés M, Curtis M. Abidi F, et al. Am J Med Genet. 1999 Jul 30;85(3):249-51. doi: 10.1002/(sici)1096-8628(19990730)85:3<249::aid-ajmg12>3.0.co;2-u. Am J Med Genet. 1999. PMID: 10398237 No abstract available.

10

Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus.

Hassed S, Shewmake K, Teo C, Curtis M, Cunniff C. Hassed S, et al. Am J Med Genet. 1997 Jun 27;70(4):450-3. Am J Med Genet. 1997. PMID: 9182791 No abstract available.

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