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Literature DB >> 14295659

KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS.

M A FERGUSON-SMITH.

Abstract

Keywords: DIAGNOSIS; KARYOMETRY; REVIEW; TURNER'S SYNDROME

Mesh：

Year: 1965 PMID： 14295659 PMCID： PMC1012851 DOI： 10.1136/jmg.2.2.142

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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31 in total

1. Congenital anomalies associated with gonadal aplasia; review of 55 cases.

Authors: H M HADDAD; L WILKINS
Journal: Pediatrics Date: 1959-05 Impact factor: 7.124

2. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome).

Authors: C E FORD; K W JONES; P E POLANI; J C DE ALMEIDA; J H BRIGGS
Journal: Lancet Date: 1959-04-04 Impact factor: 79.321

3. Triple mosaicism of the sex chromosomes in Turner's syndrome and Hirschsprung's disease.

Authors: M D HAYWARD; A H CAMERON
Journal: Lancet Date: 1961-09-16 Impact factor: 79.321

4. [The syndrome of multiple malformations associated with gonadal dysgenesis (Turner syndrome) with XO chromosome formula].

Authors: J GAGNON; N KATYK-LONGTIN; J C SINNOTT
Journal: Union Med Can Date: 1960-10

5. Chromosomal studies of patients with congenital anomalies simulating those of gonadal aplasia, including a case of true gonadal and sex reversal.

Authors: K OIKAWA; R M BLIZZARD
Journal: N Engl J Med Date: 1961-05-18 Impact factor: 91.245

6. [Presumption of monozygotism in spite of a sexual dimorphism: XY male subject and haploid X neuter subject].

Authors: R TURPIN; J LEJEUNE; J LAFOURCADE; P L CHIGOT; C SALMON
Journal: C R Hebd Seances Acad Sci Date: 1961-05-08

7. A new variant of human intersex with discussion on the developmental aspects.

Authors: P N SHAH; S N NAIK; D K MAHAJAN; M J DAVE; J C PAYMASTER
Journal: Br Med J Date: 1961-08-19

8. The occurrence of sex chromatin in early human and macaque embryos.

Authors: W W PARK
Journal: J Anat Date: 1957-07 Impact factor: 2.610

9. The chromosomes of man.

Authors: C E FORD; J L HAMERTON
Journal: Nature Date: 1956-11-10 Impact factor: 49.962

10. Gene action in the X-chromosome of the mouse (Mus musculus L.).

Authors: M F LYON
Journal: Nature Date: 1961-04-22 Impact factor: 49.962

102 in total

1. Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome.

Authors: M Tzancheva; R Kaneva; P Kumanov; G Williams; C Tyler-Smith
Journal: J Med Genet Date: 1999-07 Impact factor: 6.318

2. [45,X/46,SYq dic-Sexchromosome mosaic].

Authors: R O Frey; E M Bühler; U K Bühler; G R Stalder
Journal: Humangenetik Date: 1975

3. Chromosomal and clinical findings in 110 females with Turner syndrome.

Authors: C G Palmer; A Reichmann
Journal: Hum Genet Date: 1976-12-29 Impact factor: 4.132

4. Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.

Authors: A Henke; M Wapenaar; G J van Ommen; P Maraschio; G Camerino; G Rappold
Journal: Am J Hum Genet Date: 1991-10 Impact factor: 11.025

5. Deletion mapping of 39 random isolated Y-chromosome DNA fragments.

Authors: C J Oosthuizen; J S Herbert; L K Vermaak; J Brusnicky; J Fricke; L du Plessis; A E Retief
Journal: Hum Genet Date: 1990-07 Impact factor: 4.132

6. The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases.

Authors: H J Chang; R D Clark; H Bachman
Journal: Am J Hum Genet Date: 1990-01 Impact factor: 11.025

Review 7. The great escape.

Authors: C M Disteche
Journal: Am J Hum Genet Date: 1997-06 Impact factor: 11.025