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Literature DB >> 5097907

Multiple abnormalities due to possible genetic inactivation in an X-autosome translocation.

T H Thelen, D J Abrams, R O Fisch.

Abstract

Entities: Disease

Mesh：

Year: 1971 PMID： 5097907 PMCID： PMC1706708

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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24 in total

1. Autoradiographic investigations of centric fragments and rings in patients with stigmata of gonadal dysgenesis.

Authors: M M Cohen; A A Sandberg; N Takagi; M H MacGillivray
Journal: Cytogenetics Date: 1967

2. Presumptive x-autosome translocation in a cow: preferential inactivation of the normal x chromosome.

Authors: I Gustavsson; M Fraccaro; L Tiepolo; J Lindsten
Journal: Nature Date: 1968-04-13 Impact factor: 49.962

3. [Deficiency of long arm of chromosome 18 (18q--)].

Authors: J Lafourcade; J Lejeune
Journal: Union Med Can Date: 1968-07

4. Two cases of primary amenorrhea with deletion of the long arm of theX chromosome (46, XXq-).

Authors: F A Baughman; K J Vander Kolk; J D Mann; A Valdmanis
Journal: Am J Obstet Gynecol Date: 1968-12-15 Impact factor: 8.661

5. DNA replication and genetic expression in female mice with morphologically distinguishable X chromosomes.

Authors: H J Evans; C E Ford; M F Lyon; J Gray
Journal: Nature Date: 1965-05-29 Impact factor: 49.962

6. Apparent deletion of X chromosome in a prepuberal girl.

Authors: E Steinberger; A Steinberger; K D Smith; W H Perloff
Journal: J Med Genet Date: 1966-09 Impact factor: 6.318

7. Multiple congenital anomalies associated with a ring 3 chromosome and translocated 3/X chromosome.

Authors: D Mukerjee; W J Burdette
Journal: Nature Date: 1966-10-08 Impact factor: 49.962

8. Genetic control over the inactivation of autosomal genes attached to the X-chromosome.

Authors: B M Cattanach; J H Isaacson
Journal: Z Vererbungsl Date: 1965

9. Cytogenetical and clinical investigations in four subjects with anomalies of sexual development.

Authors: M Fraccaro; J Lindsten; H P Klinger; L Tiepolo; C G Bergstrand; K M Herrlin; A Livaditis; M Pehrson; K G Tillinger
Journal: Science Date: 1967-01-13 Impact factor: 47.728

10. An XO-X ring X chromosome mosaicism in an individual with normal secondary sexual development.

Authors: A M Bishop; C E Blank; K Simpson; C J Dewhurst
Journal: J Med Genet Date: 1966-06 Impact factor: 6.318

27 in total

1. Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21).

Authors: J Couturier; B Dutrillaux; P Garber; O Raoul; M F Croquette; J C Fourlinnie; E Maillard
Journal: Hum Genet Date: 1979-07-18 Impact factor: 4.132

2. Aspermia, associated with a presumably balanced X/autosomal translocation karyotype 46, Y, t (X;5) (q28;q11).

Authors: S Stengel-Rutkowski; H Zankl; A Rodewald; S Scharrer; J P Chaudhuri; K D Zang
Journal: Hum Genet Date: 1976-01-28 Impact factor: 4.132

3. X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.

Authors: R Bernstein; B Dawson; R Kohl; T Jenkins
Journal: J Med Genet Date: 1979-08 Impact factor: 6.318

Multiple abnormalities due to possible genetic inactivation in an X-autosome translocation.

1. Autoradiographic investigations of centric fragments and rings in patients with stigmata of gonadal dysgenesis.

2. Presumptive x-autosome translocation in a cow: preferential inactivation of the normal x chromosome.

3. [Deficiency of long arm of chromosome 18 (18q--)].

4. Two cases of primary amenorrhea with deletion of the long arm of theX chromosome (46, XXq-).

5. DNA replication and genetic expression in female mice with morphologically distinguishable X chromosomes.

6. Apparent deletion of X chromosome in a prepuberal girl.

7. Multiple congenital anomalies associated with a ring 3 chromosome and translocated 3/X chromosome.

8. Genetic control over the inactivation of autosomal genes attached to the X-chromosome.

9. Cytogenetical and clinical investigations in four subjects with anomalies of sexual development.

10. An XO-X ring X chromosome mosaicism in an individual with normal secondary sexual development.

1. Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21).

2. Aspermia, associated with a presumably balanced X/autosomal translocation karyotype 46, Y, t (X;5) (q28;q11).

3. X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.

4. 18Q - syndrome resulting from a tdic(14p; 18q).

Review 5. Partial monosomies 18. Review of cytogenetical and phenotypical variants.

6. Trisomy 13 with a 13-X translocation.

7. Abnormal X chromosomes in man: origin, behavior and effects.

8. X-X translocation in a patient with Turner's syndrome.

9. Structural aberrations of chromosome 18. II. The 18q- syndrome. Report of three cases.

10. [Four new cases of X-autosome translocation in man (author's transl)].