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[Familiar penetrancy of HFE gene: four brothers of the same family affected by hereditary haemochromatosis]. / Penetrancia familiar del gen HFE: los cuatro hermanos de una familia afectados por hemocromatosis hereditaria.

Vázquez Romero, M; Boixeda de Miquel, D; Martín de Argila de Prados, C; Vallcorba Gómez del Valle, I; Cabello Albendea, P; López San Román, A; San Román Cos-Gayón, C.

Rev Esp Enferm Dig ; 97(8): 608-9, 2005 Aug.

Article in Spanish | MEDLINE | ID: mdl-16266232

Subject(s)

Hemochromatosis/genetics , Histocompatibility Antigens Class I/genetics , Membrane Proteins/genetics , Penetrance , Adult , Hemochromatosis Protein , Humans , Male

Penetrancia familiar del gen HFE: los cuatro hermanos de una familia afectados por hemocromatosis hereditaria / Familiar penetrancy of HFE gene: four brothers of the same family affected by hereditary haemochromatosis

Vázquez Romero, M; Boixeda de Miquel, D; Martín de Argila de Prados, C; Vallcorba Gómez del Valle, I; Cabello Albendea, P; López San Román, A; San Román Cos-Gayón, C.

Rev. esp. enferm. dig ; 97(8): 608-609, ago. 2005. tab

Article in Es | IBECS | ID: ibc-042731

ABSTRACT

No disponible

Subject(s)

Male , Adult , Humans , Hemochromatosis/genetics , Histocompatibility Antigens Class I/genetics , Membrane Proteins/genetics

[Primary hemochromatosis with abnormally low serum ferritin]. / Hemocromatosis primaria con ferritina sérica anormalmente baja.

Vázquez Romero, M; Boixeda de Miquel, D; Vallcorba Gómez del Valle, I; Foruny Olcina, J R; Valer López-Fando, M P; San Román Cos-Gayón, C.

Gastroenterol Hepatol ; 26(6): 396-7, 2003.

Article in Spanish | MEDLINE | ID: mdl-12809577

Subject(s)

Ferritins/deficiency , Hemochromatosis/blood , Blood Donors , Female , Ferritins/blood , Hemochromatosis/diagnosis , Hemochromatosis/genetics , Hemochromatosis Protein , Histocompatibility Antigens Class I/genetics , Humans , Membrane Proteins/genetics , Metrorrhagia/complications , Middle Aged

[Familial pericentric inversion of y chromosome and Down's syndrome]. / Inversión pericéntrica familiar del cromosoma Y y síndrome de Down

García Sagredo, J M; Morán Cabré, A; San Román Cos-Gayón, C.

An Esp Pediatr ; 8(1): 68-71, 1975.

Article in Spanish | MEDLINE | ID: mdl-123717

ABSTRACT

A boy with Down's syndrome is presented. Karyotipe showed a 47,XY,+21,inv Y(p+q--) constitution. The father had the same Y anomaly. A review of pericentric inversions of Y chromosome and its possible relation with Down's syndrome is made.

Subject(s)

Chromosome Aberrations , Down Syndrome/genetics , Chromosomes, Human, 21-22 and Y , Humans , Infant, Newborn , Karyotyping , Male

Insulin secretion in Down's syndrome.

Serrano-Ríos, M; San Roman Cos Gayon, C; Sordo, M T; Rodriguez-Miñón, J L.

Diabetologia ; 9(1): 50-2, 1973 Feb.

Article in English | MEDLINE | ID: mdl-4267108

Subject(s)

Down Syndrome/metabolism , Insulin/metabolism , Adolescent , Adult , Blood Glucose/analysis , Female , Glucose/administration & dosage , Glucose/pharmacology , Glucose Tolerance Test , Humans , Insulin Antibodies/analysis , Insulin Secretion , Male

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