McConkie-Rosell A - Search Results

1

Carrier testing in fragile X syndrome: effect on self-concept.

McConkie-Rosell A, Spiridigliozzi GA, Sullivan JA, Dawson DV, Lachiewicz AM. McConkie-Rosell A, et al. Am J Med Genet. 2000 Jun 19;92(5):336-42. doi: 10.1002/1096-8628(20000619)92:5<336::aid-ajmg8>3.0.co;2-l. Am J Med Genet. 2000. PMID: 10861663

2

Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature.

Van Hove JL, McConkie-Rosell A, Chen YT, Iafolla AK, Lanman JT Jr, Hennessy MD, Kahler SG. Van Hove JL, et al. Am J Med Genet. 1992 Sep 1;44(1):24-30. doi: 10.1002/ajmg.1320440107. Am J Med Genet. 1992. PMID: 1519645

3

VATER and hydrocephalus: distinct syndrome?

Iafolla AK, McConkie-Rosell A, Chen YT. Iafolla AK, et al. Am J Med Genet. 1991 Jan;38(1):46-51. doi: 10.1002/ajmg.1320380112. Am J Med Genet. 1991. PMID: 2012132

4

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

McConkie-Rosell A, Lachiewicz AM, Spiridigliozzi GA, Tarleton J, Schoenwald S, Phelan MC, Goonewardena P, Ding X, Brown WT. McConkie-Rosell A, et al. Am J Hum Genet. 1993 Oct;53(4):800-9. Am J Hum Genet. 1993. PMID: 8213810 Free PMC article.

5

Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counselors.

McConkie-Rosell A, Robinson H, Wake S, Staley LW, Heller K, Cronister A. McConkie-Rosell A, et al. Am J Med Genet. 1995 Dec 4;59(4):426-30. doi: 10.1002/ajmg.1320590406. Am J Med Genet. 1995. PMID: 8585560

6

Fryns syndrome survivors and neurologic outcome.

Van Hove JL, Spiridigliozzi GA, Heinz R, McConkie-Rosell A, Iafolla AK, Kahler SG. Van Hove JL, et al. Am J Med Genet. 1995 Nov 20;59(3):334-40. doi: 10.1002/ajmg.1320590311. Am J Med Genet. 1995. PMID: 8599357 Review.

7

A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.

Lachiewicz AM, Spiridigliozzi GA, McConkie-Rosell A, Burgess D, Feng Y, Warren ST, Tarleton J. Lachiewicz AM, et al. Am J Med Genet. 1996 Aug 9;64(2):278-82. doi: 10.1002/(SICI)1096-8628(19960809)64:2<278::AID-AJMG9>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8844065

8

Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: single causal entity?

Kishnani P, Iafolla AK, McConkie-Rosell A, Van Hove JL, Kanter RJ, Kahler SG. Kishnani P, et al. Am J Med Genet. 1995 Oct 23;59(1):44-8. doi: 10.1002/ajmg.1320590110. Am J Med Genet. 1995. PMID: 8849010

9

Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers.

McConkie-Rosell A, Spiridigliozzi GA, Iafolla T, Tarleton J, Lachiewicz AM. McConkie-Rosell A, et al. Am J Med Genet. 1997 Jan 10;68(1):62-9. doi: 10.1002/(sici)1096-8628(19970110)68:1<62::aid-ajmg12>3.0.co;2-m. Am J Med Genet. 1997. PMID: 8986278

10

Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers.

Shen J, Liu HM, McConkie-Rosell A, Chen YT. Shen J, et al. Prenat Diagn. 1998 Jan;18(1):61-4. doi: 10.1002/(sici)1097-0223(199801)18:1<61::aid-pd223>3.0.co;2-i. Prenat Diagn. 1998. PMID: 9483641

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