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Literature DB >> 7196380

Sex-reversed XY females with campomelic dysplasia are H-Y negative.

F D Bricarelli, M Fraccaro, J Lindsten, U Müller, P Baggio, L D Carbone, A Hjerpe, F Lindgren, A Mayerová, H Ringertz, E M Ritzén, D C Rovetta, C Sicchero, U Wolf.

Abstract

Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen and were found to be H-Y negative.

Entities: Disease Species

Mesh：

Substances：
H-Y Antigen

Year: 1981 PMID： 7196380 DOI： 10.1007/bf00271160

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

15 in total

1. [The mechanism of gonadal differentiation].

Authors: U Wolf
Journal: Bull Schweiz Akad Med Wiss Date: 1978-11

2. Binding studies of H-Y antigen in rat tissues: indications for a gonad-specific receptor.

Authors: U Müller; I Aschmoneit; M T Zenzes; U Wolf
Journal: Hum Genet Date: 1978-08-31 Impact factor: 4.132

Review 3. International nomenclature of constitutional diseases of bone with bibliography.

Authors: D L Rimoin
Journal: Birth Defects Orig Artic Ser Date: 1979

4. Familial camptomelic dwarfism.

Authors: T F Thurmon; E B DeFraites; E E Anderson
Journal: J Pediatr Date: 1973-11 Impact factor: 4.406

5. Recessive sex-determining genes in human XX male syndrome.

Authors: A de la Chapelle; G C Koo; S S Wachtel
Journal: Cell Date: 1978-11 Impact factor: 41.582

6. Camptomelic dwarfism. A genetically determined mesenchymal disorder combined with sex reversal.

Authors: M L Hovmöller; A Osuna; O Eklöf; K Fredga; A Hjerpe; J Linsten; M Ritzen; V Stanescu; N Svenningsen
Journal: Hereditas Date: 1977 Impact factor: 3.271

7. A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223.

Authors: U Wolf; M Fraccaro; A Mayerová; T Hecht; P Maraschio; H Hameister
Journal: Hum Genet Date: 1980 Impact factor: 4.132

8. Turner syndrome patients are H-Y positive.

Authors: U Wolf; M Fraccaro; A Mayerová; T Hecht; O Zuffardi; H Hameister
Journal: Hum Genet Date: 1980 Impact factor: 4.132

9. Familial XX true hermaphroditism and the H-Y antigen.

Authors: M Fraccaro; L Tiepolo; O Zuffardi; G Chiumello; B Di Natale; L Gargantini; U Wolf
Journal: Hum Genet Date: 1979-04-17 Impact factor: 4.132

10. A highly sensitive peroxidase-antiperoxidase method for detection of H-Y antigen on cultivated human fibroblasts.

Authors: U Müller; K Bross
Journal: Hum Genet Date: 1979-11-01 Impact factor: 4.132

11 in total

1. Acampomelic campomelic dysplasia.

Authors: R I Macpherson; S A Skinner; A E Donnenfeld
Journal: Pediatr Radiol Date: 1989

2. Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories.

Authors: U E Pazzaglia; G Beluffi
Journal: Pediatr Radiol Date: 1987

Review 3. Variability in serologically detected male antigen titer and some resulting problems: a critical review.

Authors: M T Zenzes; T E Reed
Journal: Hum Genet Date: 1984 Impact factor: 4.132

4. Ovarian development in 46,XY gonadal dysgenesis.

Authors: M H Russell; S S Wachtel; B W Davis; L T Cahill; E Groos; G D Niblack; I M Burr
Journal: Hum Genet Date: 1982 Impact factor: 4.132

5. Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity. Report of the clinical and radiological findings in two siblings.

Authors: E Rezza; G Iannaccone; D Lendvai
Journal: Pediatr Radiol Date: 1984

Review 6. Genetic aspects of H-Y antigen.

Authors: U Wolf
Journal: Hum Genet Date: 1981 Impact factor: 4.132