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10 in total

1. MENTAL RETARDATION AND MULTPLE CONGENITAL ANOMALIES: ASSOCIATION WITH EXTRA SMALL METACENTRIC CHROMOSOME.

Authors: P D TAFT; P R DODGE; L ATKINS
Journal: Am J Dis Child Date: 1965-06

2. CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA.

Authors: G SCHACHENMANN; W SCHMID; M FRACCARO; A MANNINI; L TIEPOLO; G P PERONA; E SARTORI
Journal: Lancet Date: 1965-08-07 Impact factor: 79.321

3. Two cases of multiple malformations with an autosomal chromosomal aberration- partial trisomy D?

Authors: H ZELLWEGER; K MIKAMO; G ABBO
Journal: Helv Paediatr Acta Date: 1962

4. Pericentric inversions. Report on two malformation cases suggestive of parental inversion heterozygosity.

Authors: W Schmid
Journal: J Genet Hum Date: 1967-06

5. "Cat eye" syndrome with normal chromosomes.

Authors: R L Neu; S R Assemany; L I Gardner
Journal: Lancet Date: 1970-05-02 Impact factor: 79.321

6. Dermatoglyphics and chromosomes in cat-eye syndrome.

Authors: C W Darby; D T Hughes
Journal: Br Med J Date: 1971-07-03

7. Dermatoglyphics and chromosomes in cat-eye syndrome.

Authors: B Dallapiccola
Journal: Br Med J Date: 1971-09-25

8. Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosome (47,XX,mar+): report of a case.

Authors: F M Weber; R R Dooley; R S Sparkes
Journal: J Pediatr Date: 1970-04 Impact factor: 4.406

9. [Case of a mentally retarded and polymalformed child whose karyotype shows the presence of a small mediocentric extra chromosome].

Authors: P Beyer; J V Ruch; Y Rumpler; J Girard
Journal: Pediatrie Date: 1968-06

10. [Malformations of the vagina and rectum associated to chromosomic anomaly (47, XX, ?G+)].

Authors: S Curcio
Journal: Arch Ostet Ginecol Date: 1967 Sep-Oct

10 in total

7 in total

1. Tertiary partial 14 trisomy 47, XX, plus 14q minus.

Authors: J P Fryns; J J Cassiman; H Van den Berghe
Journal: Humangenetik Date: 1974

2. Supernumerary small ring chromosome.

Authors: J J Hoo; C Forster; I Kindermann; B Zabel; S Hansen
Journal: Humangenetik Date: 1974

3. Ribosomal DNA sites in a metacentric chromosome fragment.

Authors: L D Johnson; R C Harris; A S Henderson
Journal: Humangenetik Date: 1974

4. Partial trisomy for the long arm of chromosome 3 [3(q21 to qter)+] in a newborn with minor physical stigmata.

Authors: J P Fryns; M van Eygen; N Logghe; H Van den Berghe
Journal: Hum Genet Date: 1978-02-16 Impact factor: 4.132

5. Coloboma and anorectal malformations: a rare association with important clinical implications.

Authors: Giulia Brisighelli; Andrea Bischoff; Marc Levitt; Jennifer Hall; Elizabeth Monti; Alberto Peña
Journal: Pediatr Surg Int Date: 2013-09 Impact factor: 1.827

Review 6. [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].

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

7. The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Authors: A Schinzel; W Schmid; M Fraccaro; L Tiepolo; O Zuffardi; J M Opitz; J Lindsten; P Zetterqvist; H Enell; C Baccichetti; R Tenconi; R A Pagon
Journal: Hum Genet Date: 1981 Impact factor: 4.132

7 in total