Stevens CA - Search Results

1

Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers.

Reynolds JE, Arnos KS, Landa B, Stevens CA, Salbert BA, Wright L, Duke B, Hunt W, Marazita ML, Ploughman L, et al. Reynolds JE, et al. Among authors: stevens ca. Hum Hered. 1995 Sep-Oct;45(5):243-52. doi: 10.1159/000154307. Hum Hered. 1995. PMID: 7590754

2

Tracheomalacia in Hallermann-Streiff syndrome.

Salbert BA, Stevens CA, Spence JE. Salbert BA, et al. Among authors: stevens ca. Am J Med Genet. 1991 Dec 15;41(4):521-3. doi: 10.1002/ajmg.1320410429. Am J Med Genet. 1991. PMID: 1776648 Review.

3

Ascertainment of families with hereditary deafness for linkage studies. Waardenburg and Usher syndromes.

Stevens C, Arnos K, Bodurtha J, Wright L, Rawlings B, Marazita M, Nance W, Diehl S. Stevens C, et al. Ann N Y Acad Sci. 1991;630:293-4. doi: 10.1111/j.1749-6632.1991.tb19610.x. Ann N Y Acad Sci. 1991. PMID: 1952611 No abstract available.

4

Analysis of variability of clinical manifestations in Waardenburg syndrome.

Reynolds JE, Meyer JM, Landa B, Stevens CA, Arnos KS, Israel J, Marazita ML, Bodurtha J, Nance WE, Diehl SR. Reynolds JE, et al. Among authors: stevens ca. Am J Med Genet. 1995 Jul 17;57(4):540-7. doi: 10.1002/ajmg.1320570405. Am J Med Genet. 1995. PMID: 7573125

5

Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X,+mar: additional support for the loss of the X-inactivation center hypothesis.

Cole H, Huang B, Salbert BA, Brown J, Howard-Peebles PN, Black SH, Dorfmann A, Febles OR, Stevens CA, Jackson-Cook C. Cole H, et al. Among authors: stevens ca. Am J Med Genet. 1994 Aug 15;52(2):136-45. doi: 10.1002/ajmg.1320520204. Am J Med Genet. 1994. PMID: 7801998 Review.

6

Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.

Reynolds JE, Marazita ML, Meyer JM, Stevens CA, Eaves LJ, Arnos KS, Ploughman LM, MacLean C, Nance WE, Diehl SR. Reynolds JE, et al. Among authors: stevens ca. Am J Hum Genet. 1996 Feb;58(2):384-92. Am J Hum Genet. 1996. PMID: 8571965 Free PMC article.

7

Innovations in human genetics education. Medical student elective in clinical genetics.

Bodurtha J, Spence JE, Stevens CA. Bodurtha J, et al. Among authors: stevens ca. Am J Hum Genet. 1991 Aug;49(2):494-6. Am J Hum Genet. 1991. PMID: 1867210 Free PMC article.

8

Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region.

Strehle EM, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen TJ, Martinez JE, Fan YS, Barbouth D, Zhu H, Vaglio A, Smith R, Stevens CA, Curry CJ, Ladda RL, Fan ZJ, Fox JE, Martin JA, Abdel-Hamid HZ, McCracken EA, McGillivray BC, Masser-Frye D, Huang T. Strehle EM, et al. Among authors: stevens ca. Am J Med Genet A. 2012 Sep;158A(9):2139-51. doi: 10.1002/ajmg.a.35502. Epub 2012 Jul 27. Am J Med Genet A. 2012. PMID: 22847869

9

The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.

Schrander-Stumpel C, Meyer H, Merckx D, Jones M, Israel J, Sommer A, Stevens C, Tinschert S, Wilson G, Willems P, et al. Schrander-Stumpel C, et al. Genet Couns. 1994;5(1):1-10. Genet Couns. 1994. PMID: 8031529

10

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.

Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW. Bi W, et al. Among authors: stevens ca. J Med Genet. 2012 Nov;49(11):681-8. doi: 10.1136/jmedgenet-2012-101002. Epub 2012 Oct 5. J Med Genet. 2012. PMID: 23042811

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