Literature DB >> 14330081

CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA.

G SCHACHENMANN, W SCHMID, M FRACCARO, A MANNINI, L TIEPOLO, G P PERONA, E SARTORI.   

Abstract

Entities:  

Keywords:  ABNORMALITIES; ANUS; CHILD; CHROMOSOME ABNORMALITIES; COLOBOMA; EYE DISEASES; INFANT; INTESTINAL DISEASES

Mesh：

Year:  1965        PMID： 14330081     DOI： 10.1016/s0140-6736(65)92415-3

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  43 in total

1.  A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies.

Authors:  Anthony L Gotter; Manjunath A Nimmakayalu; G Reza Jalali; April M Hacker; Jacob Vorstman; Danielle Conforto Duffy; Livija Medne; Beverly S Emanuel
Journal:  Genome Res       Date:  2007-03-09       Impact factor: 9.043

2.  Chromosome survey of total population of mentally subnormal in North-East of Scotland.

Authors:  R M Speed; A W Johnston; H J Evans
Journal:  J Med Genet       Date:  1976-08       Impact factor: 6.318

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.  Cat eye syndrome.

Authors:  Deepak Sharma; Srinivas Murki; Tejo Pratap; Madhavi Vasikarla
Journal:  BMJ Case Rep       Date:  2014-05-19

Review 5.  Malformations of kidney and urinary tract in common chromosomal aberrations. II. Morphogenetic studies.

Authors:  G Töndury
Journal:  Humangenetik       Date:  1973-03-23

6.  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

7.  The aetiology of the cat eye syndrome reconsidered.

Authors:  G Guanti
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

8.  Eyes in arhinencephalic syndromes.

Authors:  A G Karseras; K M Laurence
Journal:  Br J Ophthalmol       Date:  1975-09       Impact factor: 4.638

Review 9.  [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].

Authors:  J Kunze; M Tolksdorf; H R Wiedemann
Journal:  Humangenetik       Date:  1975

Review 10.  Human chromosome 22.

Authors:  J C Kaplan; A Aurias; C Julier; M Prieur; M F Szajnert
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318
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