Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.

A. Iannaccone, D. K. Breuer, X. F. Wang, S. F. Kuo, E. M. Normando, E. Filippova, A. Baldi, S. Hiriyanna, C. B. MacDonald, F. Baldi, D. Cosgrove, C. C. Morton, A. Swaroop, M. M. Jablonski

Research output: Contribution to journalComment/debate

78 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)e118
JournalJournal of medical genetics
Volume40
Issue number11
StatePublished - Nov 1 2003

Fingerprint

Eye Proteins
Molecular Sequence Data
Chromosomes, Human, X
Hearing Disorders
Genetic Linkage
Retinitis Pigmentosa
Pedigree
Hearing Loss
Respiratory Tract Infections
Amino Acid Sequence
Immunohistochemistry
Recurrence
Mutation
Infection
RHYNS syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Iannaccone, A., Breuer, D. K., Wang, X. F., Kuo, S. F., Normando, E. M., Filippova, E., ... Jablonski, M. M. (2003). Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. Journal of medical genetics, 40(11), e118.

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. / Iannaccone, A.; Breuer, D. K.; Wang, X. F.; Kuo, S. F.; Normando, E. M.; Filippova, E.; Baldi, A.; Hiriyanna, S.; MacDonald, C. B.; Baldi, F.; Cosgrove, D.; Morton, C. C.; Swaroop, A.; Jablonski, M. M.

In: Journal of medical genetics, Vol. 40, No. 11, 01.11.2003, p. e118.

Research output: Contribution to journalComment/debate

Iannaccone, A, Breuer, DK, Wang, XF, Kuo, SF, Normando, EM, Filippova, E, Baldi, A, Hiriyanna, S, MacDonald, CB, Baldi, F, Cosgrove, D, Morton, CC, Swaroop, A & Jablonski, MM 2003, 'Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.', Journal of medical genetics, vol. 40, no. 11, pp. e118.
Iannaccone, A. ; Breuer, D. K. ; Wang, X. F. ; Kuo, S. F. ; Normando, E. M. ; Filippova, E. ; Baldi, A. ; Hiriyanna, S. ; MacDonald, C. B. ; Baldi, F. ; Cosgrove, D. ; Morton, C. C. ; Swaroop, A. ; Jablonski, M. M. / Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. In: Journal of medical genetics. 2003 ; Vol. 40, No. 11. pp. e118.
@article{77e421b471814c7a9dfec78c82d2dc5e,
title = "Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.",
author = "A. Iannaccone and Breuer, {D. K.} and Wang, {X. F.} and Kuo, {S. F.} and Normando, {E. M.} and E. Filippova and A. Baldi and S. Hiriyanna and MacDonald, {C. B.} and F. Baldi and D. Cosgrove and Morton, {C. C.} and A. Swaroop and Jablonski, {M. M.}",
year = "2003",
month = "11",
day = "1",
language = "English (US)",
volume = "40",
pages = "e118",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "BMJ Publishing Group",
number = "11",

}

TY - JOUR

T1 - Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.

AU - Iannaccone, A.

AU - Breuer, D. K.

AU - Wang, X. F.

AU - Kuo, S. F.

AU - Normando, E. M.

AU - Filippova, E.

AU - Baldi, A.

AU - Hiriyanna, S.

AU - MacDonald, C. B.

AU - Baldi, F.

AU - Cosgrove, D.

AU - Morton, C. C.

AU - Swaroop, A.

AU - Jablonski, M. M.

PY - 2003/11/1

Y1 - 2003/11/1

UR - http://www.scopus.com/inward/record.url?scp=1542753557&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=1542753557&partnerID=8YFLogxK

M3 - Comment/debate

C2 - 14627685

AN - SCOPUS:1542753557

VL - 40

SP - e118

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 11

ER -