Literature DB >> 4998085

X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome.

M F Goldberg, V A McKusick.   

Abstract

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Year:  1971        PMID： 4998085     DOI： 10.1016/0002-9394(71)90588-5

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


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  12 in total

1.  The Nance-Horan syndrome.

Authors:  I R Walpole; A Hockey; A Nicoll
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

2.  Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome.

Authors:  Michael Joseph Kluk; Yu An; Philip James; David Coulter; David Harris; Bai-Lin Wu; Yiping Shen
Journal:  J Mol Diagn       Date:  2011-05       Impact factor: 5.568

3.  Uveal colobomata and Klinefelter syndrome.

Authors:  M S Hashmi; A G Karseras
Journal:  Br J Ophthalmol       Date:  1976-09       Impact factor: 4.638

4.  Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.

Authors:  R A Lewis
Journal:  Trans Am Ophthalmol Soc       Date:  1989

5.  Two cases of coloboma associated with unbalanced translocations.

Authors:  M Goggin; M O'Keefe; H Hughes
Journal:  Br J Ophthalmol       Date:  1993-02       Impact factor: 4.638

Review 6.  Malformation syndromes: a review of mouse/human homology.

Authors:  R M Winter
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

7.  The familial contribution to non-syndromic ocular coloboma in south India.

Authors:  S J Hornby; L Dandona; R B Jones; H Stewart; C E Gilbert
Journal:  Br J Ophthalmol       Date:  2003-03       Impact factor: 4.638

8.  Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs.

Authors:  C K Ho; R L Kaufman; S M Podos
Journal:  J Med Genet       Date:  1975-09       Impact factor: 6.318

Review 9.  Genetics of microphthalmos.

Authors:  M Warburg
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

10.  Cryptorchidism, micropenis and clinical anophthalmia epilepsy in a retarded boy.

Authors:  K Izumiya; T Nakada
Journal:  Int Urol Nephrol       Date:  1996       Impact factor: 2.370
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