McConkie-Rosell A - Search Results

1

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

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

Prenatal diagnosis of metabolic disease.

Iafolla AK, McConkie-Rosell A. Iafolla AK, et al. Clin Perinatol. 1990 Dec;17(4):761-77. Clin Perinatol. 1990. PMID: 2286027 Review.

5

Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.

McConkie-Rosell A, Chen YT, Harris D, Speer MC, Pericak-Vance MA, Ding JH, Highsmith WE Jr, Knowles M, Kahler SG. McConkie-Rosell A, et al. Ann Intern Med. 1989 Nov 15;111(10):797-801. doi: 10.7326/0003-4819-111-10-797. Ann Intern Med. 1989. PMID: 2817627

6

Mild cystic fibrosis in a consanguineous family.

Knowles MR, Barnett TB, McConkie-Rosell A, Sawyer C, Kahler SG. Knowles MR, et al. Ann Intern Med. 1989 Apr 15;110(8):599-605. doi: 10.7326/0003-4819-110-8-599. Ann Intern Med. 1989. PMID: 2930093

7

Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A, Van Hove JL, Ou HC, Yeh NJ, Pan LY, et al. Lei KJ, et al. Am J Hum Genet. 1995 Oct;57(4):766-71. Am J Hum Genet. 1995. PMID: 7573034 Free PMC article.

8

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

9

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.

10

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease.

McConkie-Rosell A, Wilson C, Piccoli DA, Boyle J, DeClue T, Kishnani P, Shen JJ, Boney A, Brown B, Chen YT. McConkie-Rosell A, et al. J Inherit Metab Dis. 1996;19(1):51-8. doi: 10.1007/BF01799348. J Inherit Metab Dis. 1996. PMID: 8830177

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