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Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study

100%

Soardi F. C., Borchers C. F., Maciel-Guerra A. T., Guerra-Junior G., Palandi d. M. M.

Journal of Applied Genetics

2010

tom 51

nr 2

223-224

The SRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15-20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in the NR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal STY and no adrenal failure.

The risk of neoplasm associated with dysgenetic testes in prepubertal and pubertal/adult patients

84%

Slowikowska-Hilczer J., Szarras-Czapnik M., Wolski J. K., Oszukowska E., Hilczer M., Jakubowski L., Walczak-Jedrzejowska R., Marchlewska K., Filipiak E., Kaluzewski B., Baka-Ostrowska M., Niedzielski J., Kula K.

Folia Histochemica et Cytobiologica

2015

tom 53

nr 3

Features of gonadal dysgenesis and Leydig cell impairment in testes with Sertoli cell-only syndrome

84%

Adamczewska D., Slowikowska-Hilczer J., Marchlewska K., Walczak-Jedrzejowska R.

Folia Histochemica et Cytobiologica

2020

tom 58

nr 2

Immunohistochemical diagnosis of preinvasive germ cell cancer of the testis

84%

Slowikowska-Hilczer J., Walczak-Jedrzejowska R., Kula K.

Folia Histochemica et Cytobiologica

2001

tom 39

nr 2

Nuclear DNA content and proliferative potential of human carcinoma in situ cells in testes of intersex children

67%

Slowikowska-Hilczer J.

Folia Histochemica et Cytobiologica

2001

tom 39

nr 2

Ograniczanie wyników

4 Folia Histochemica et Cytobiologica

1 Journal of Applied Genetics

4 Slowikowska-Hilczer J.

3 Walczak-Jedrzejowska R.

2 Kula K.

2 Marchlewska K.

1 Adamczewska D.

1 Baka-Ostrowska M.

1 Borchers C. F.

1 Filipiak E.

1 Guerra-Junior G.

1 Hilczer M.

1 Jakubowski L.

1 Kaluzewski B.

1 Maciel-Guerra A. T.

1 Niedzielski J.

1 Oszukowska E.

1 Palandi d. M. M.

1 Soardi F. C.

1 Szarras-Czapnik M.

1 Wolski J. K.

1 2020

1 2015

1 2010

2 2001

Wyniki wyszukiwania

Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study

The risk of neoplasm associated with dysgenetic testes in prepubertal and pubertal/adult patients

Features of gonadal dysgenesis and Leydig cell impairment in testes with Sertoli cell-only syndrome

Immunohistochemical diagnosis of preinvasive germ cell cancer of the testis

Nuclear DNA content and proliferative potential of human carcinoma in situ cells in testes of intersex children