Wildin RS - Search Results

1

Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome.

Levy-Lahad E, Wildin RS. Levy-Lahad E, et al. Among authors: wildin rs. J Pediatr. 2001 Apr;138(4):577-80. doi: 10.1067/mpd.2001.111502. J Pediatr. 2001. PMID: 11295725

2

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

Wildin RS, Ramsdell F, Peake J, Faravelli F, Casanova JL, Buist N, Levy-Lahad E, Mazzella M, Goulet O, Perroni L, Bricarelli FD, Byrne G, McEuen M, Proll S, Appleby M, Brunkow ME. Wildin RS, et al. Nat Genet. 2001 Jan;27(1):18-20. doi: 10.1038/83707. Nat Genet. 2001. PMID: 11137992

3

Clinical utility of direct mutation testing for congenital nephrogenic diabetes insipidus in families.

Wildin RS, Cogdell DE. Wildin RS, et al. Pediatrics. 1999 Mar;103(3):632-9. doi: 10.1542/peds.103.3.632. Pediatrics. 1999. PMID: 10049968

4

Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

Wildin RS, Smyk-Pearson S, Filipovich AH. Wildin RS, et al. J Med Genet. 2002 Aug;39(8):537-45. doi: 10.1136/jmg.39.8.537. J Med Genet. 2002. PMID: 12161590 Free PMC article. Review.

5

Prospective immunological profiling in a case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX).

Bakke AC, Purtzer MZ, Wildin RS. Bakke AC, et al. Among authors: wildin rs. Clin Exp Immunol. 2004 Aug;137(2):373-8. doi: 10.1111/j.1365-2249.2004.02537.x. Clin Exp Immunol. 2004. PMID: 15270855 Free PMC article.

6

Rescue of the autoimmune scurfy mouse by partial bone marrow transplantation or by injection with T-enriched splenocytes.

Smyk-Pearson SK, Bakke AC, Held PK, Wildin RS. Smyk-Pearson SK, et al. Among authors: wildin rs. Clin Exp Immunol. 2003 Aug;133(2):193-9. doi: 10.1046/j.1365-2249.2003.02217.x. Clin Exp Immunol. 2003. PMID: 12869024 Free PMC article.

7

Correlation of linkage data with phenotype in eight families with Stickler syndrome.

Wilkin DJ, Mortier GR, Johnson CL, Jones MC, de Paepe A, Shohat M, Wildin RS, Falk RE, Cohn DH. Wilkin DJ, et al. Among authors: wildin rs. Am J Med Genet. 1998 Nov 2;80(2):121-7. Am J Med Genet. 1998. PMID: 9805127

8

AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.

Wildin RS, Cogdell DE, Valadez V. Wildin RS, et al. Kidney Int. 1998 Dec;54(6):1909-22. doi: 10.1046/j.1523-1755.1998.00214.x. Kidney Int. 1998. PMID: 9853256 Free article.

9

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM; Molecular Basis of Periodontal EDS Consortium; Byers PH, Zschocke J. Kapferer-Seebacher I, et al. Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745832 Free PMC article.

10

Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.

Wildin RS, Antush MJ, Bennett RL, Schoof JM, Scott CR. Wildin RS, et al. Am J Hum Genet. 1994 Aug;55(2):266-77. Am J Hum Genet. 1994. PMID: 7913579 Free PMC article.

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