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Results: 1-10 |
Results: 10
CLINICAL-STUDY OF 10 PATIENTS WITH BARDET-BIEDL-SYNDROME
Authors: LORDASANCHEZ I TRUJILLO MJ SANZ R DEALBA MR RAMOS C VALVERDE D AYUSO C
Citation: I. Lordasanchez et al., CLINICAL-STUDY OF 10 PATIENTS WITH BARDET-BIEDL-SYNDROME, European journal of human genetics, 6, 1998, pp. 1008-1008
A MELAS PHENOTYPE ASSOCIATED TO A PATERNAL INHERITED INVERSION OF CHROMOSOME-10
Authors: LORDASANCHEZ I RUIZ P DEALBA MR SARASA JL MONTOYA J TRUJILLO MJ SANZ R RAMOS C AYUSO C
Citation: I. Lordasanchez et al., A MELAS PHENOTYPE ASSOCIATED TO A PATERNAL INHERITED INVERSION OF CHROMOSOME-10, European journal of human genetics, 6, 1998, pp. 1009-1009
ACHONDROPLASIA - MOLECULAR STUDY OF 28 PA TIENTS
Authors: CLIMENT C LORDASANCHEZ I URIOSTE M GAIRI JM RODRIGUEZ JI RUBIO V
Citation: C. Climent et al., ACHONDROPLASIA - MOLECULAR STUDY OF 28 PA TIENTS, Medicina Clinica, 110(13), 1998, pp. 492-494
INCREASED PARENTAL AGE AND NUMBER OF PREGNANCIES IN KLIPPEL-TRENAUNAY-WEBER-SYNDROME
Authors: LORDASANCHEZ I PRIETO L RODRIGUEZPINILLA E MARTINEZFRIAS ML
Citation: I. Lordasanchez et al., INCREASED PARENTAL AGE AND NUMBER OF PREGNANCIES IN KLIPPEL-TRENAUNAY-WEBER-SYNDROME, Annals of Human Genetics, 62, 1998, pp. 235-239
PROXIMAL PARTIAL 5P TRISOMY RESULTING FROM A MATERNAL (19-5) INSERTION
Authors: LORDASANCHEZ I URIOSTE M VILLA A CARRASCOSA MD VAZQUEZ MS MARTINEZ A MARTINEZFRIAS ML
Citation: I. Lordasanchez et al., PROXIMAL PARTIAL 5P TRISOMY RESULTING FROM A MATERNAL (19-5) INSERTION, American journal of medical genetics, 68(4), 1997, pp. 476-480
TETRASOMY 5P MOSAICISM DUE TO AN EXTRA I(5P) IN A SEVERELY AFFECTED GIRL
Authors: LORDASANCHEZ I VILLA A URIOSTE M BERNAL E JASO E GARCIA A MARTINEZFRIAS ML
Citation: I. Lordasanchez et al., TETRASOMY 5P MOSAICISM DUE TO AN EXTRA I(5P) IN A SEVERELY AFFECTED GIRL, American journal of medical genetics, 68(4), 1997, pp. 481-484
SEVERE CONGENITAL LIMB DEFICIENCIES, VERTEBRAL HYPERSEGMENTATION, ABSENT THYMUS AND MIRROR POLYDACTYLY - A DEFECT EXPRESSION OF A DEVELOPMENTAL CONTROL GENE
Authors: URIOSTE M LORDASANCHEZ I BLANCO M BURON E APARICIO P MARTINEZFRIAS ML
Citation: M. Urioste et al., SEVERE CONGENITAL LIMB DEFICIENCIES, VERTEBRAL HYPERSEGMENTATION, ABSENT THYMUS AND MIRROR POLYDACTYLY - A DEFECT EXPRESSION OF A DEVELOPMENTAL CONTROL GENE, Human genetics, 97(2), 1996, pp. 214-217
DISTAL DELETION OF CHROMOSOME-13 IN A CHILD WITH THE OPITZ GBBB SYNDROME
Authors: URIOSTE M ARROYO I VILLA A LORDASANCHEZ I BARRIO R LOPEZCUESTA MJ RUEDA J
Citation: M. Urioste et al., DISTAL DELETION OF CHROMOSOME-13 IN A CHILD WITH THE OPITZ GBBB SYNDROME, American journal of medical genetics, 59(1), 1995, pp. 114-122
KALLMANN-SYNDROME IN A BOY WITH A T(1-10) TRANSLOCATION DETECTED BY REVERSE CHROMOSOME PAINTING
Authors: SCHINZEL A LORDASANCHEZ I BINKERT F CARTER NP BEBB CE FERGUSONSMITH MA EIHOLZER U ZACHMANN M ROBINSON WP
Citation: A. Schinzel et al., KALLMANN-SYNDROME IN A BOY WITH A T(1-10) TRANSLOCATION DETECTED BY REVERSE CHROMOSOME PAINTING, Journal of Medical Genetics, 32(12), 1995, pp. 957-961
MOLECULAR STUDIES OF CHROMOSOMAL MOSAICISM - RELATIVE FREQUENCY OF CHROMOSOME GAIN OR LOSS AND POSSIBLE ROLE OF CELL SELECTION
Authors: ROBINSON WP BINKERT F BERNASCONI F LORDASANCHEZ I WERDER EA SCHINZEL AA
Citation: Wp. Robinson et al., MOLECULAR STUDIES OF CHROMOSOMAL MOSAICISM - RELATIVE FREQUENCY OF CHROMOSOME GAIN OR LOSS AND POSSIBLE ROLE OF CELL SELECTION, American journal of human genetics, 56(2), 1995, pp. 444-451
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