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Results: 1-23 |
Results: 23
CRITERIA FOR SEQUENCING THE SRY GENE IN 46, XY FEMALES
Authors: LOPEZ M CANTO P JIMENEZ A CONTRERAS A MENDEZ JP KOFMANALFARO S
Citation: M. Lopez et al., CRITERIA FOR SEQUENCING THE SRY GENE IN 46, XY FEMALES, European journal of human genetics, 6, 1998, pp. 4047-4047
DELETION OF THE EXONS-1-3 OF THE KAL GENE AND COMPLETE DELETION OF THE STS GENE - A CONTIGUOUS GENE SYNDROME
Authors: KOFMANALFARO S CUEVASCOVARRUBIAS S ZENTENO J ULLOAAGUIRRE A MAYANUNEZ G MENDEZ J
Citation: S. Kofmanalfaro et al., DELETION OF THE EXONS-1-3 OF THE KAL GENE AND COMPLETE DELETION OF THE STS GENE - A CONTIGUOUS GENE SYNDROME, European journal of human genetics, 6, 1998, pp. 4048-4048
MOST OF THE SPORADIC CASES IN X-LINKED ICHTHYOSES ARE NOT THE NOVO MUTATIONS
Authors: CUEVASCOVARRUBIAS S VALDESFLORES M DIAZZAGOYA J OROZCO E KOFMANALFARO S
Citation: S. Cuevascovarrubias et al., MOST OF THE SPORADIC CASES IN X-LINKED ICHTHYOSES ARE NOT THE NOVO MUTATIONS, European journal of human genetics, 6, 1998, pp. 5014-5014
ORAL-FACIAL-DIGITAL (OFD) SYNDROME WITH ASSOCIATED FEATURES - A NEW SYNDROME OR GENETIC-HETEROGENEITY AND VARIABILITY
Authors: MORANBARROSO V FLORES MV GARCIACAVAZOS R KOFMANALFARO S SAAVEDRAONTIVEROS D
Citation: V. Moranbarroso et al., ORAL-FACIAL-DIGITAL (OFD) SYNDROME WITH ASSOCIATED FEATURES - A NEW SYNDROME OR GENETIC-HETEROGENEITY AND VARIABILITY, Clinical dysmorphology, 7(1), 1998, pp. 55-57
CONTIGUOUS GENE SYNDROME DUE TO DELETION OF THE FIRST 3 EXONS OF THE KALLMANN GENE AND COMPLETE DELETION OF THE STEROID SULFATASE GENE
Authors: MAYANUNEZ G CUEVASCOVARRUBIAS S ZENTENO JC ULLOAAGUIRRE A KOFMANALFARO S MENDEZ JP
Citation: G. Mayanunez et al., CONTIGUOUS GENE SYNDROME DUE TO DELETION OF THE FIRST 3 EXONS OF THE KALLMANN GENE AND COMPLETE DELETION OF THE STEROID SULFATASE GENE, Clinical endocrinology, 48(6), 1998, pp. 713-718
FREQUENCY OF Y-CHROMOSOMAL MATERIAL IN MEXICAN PATIENTS WITH ULLRICH-TURNER-SYNDROME
Authors: LOPEZ M CANTO P AGUINAGA M TORRES L CERVANTES A ALFARO G MENDEZ JP KOFMANALFARO S
Citation: M. Lopez et al., FREQUENCY OF Y-CHROMOSOMAL MATERIAL IN MEXICAN PATIENTS WITH ULLRICH-TURNER-SYNDROME, American journal of medical genetics, 76(2), 1998, pp. 120-124
GENETIC-HETEROGENEITY AND PHENOTYPIC VARI ABILITY IN 46,XY SEX REVERSAL
Authors: LOPEZLOPEZ M ZENTENO JC MENDEZ JP KOFMANALFARO S
Citation: M. Lopezlopez et al., GENETIC-HETEROGENEITY AND PHENOTYPIC VARI ABILITY IN 46,XY SEX REVERSAL, Revista de Investigacion Clinica, 50(2), 1998, pp. 171-176
A RECURRENT MISSENSE MUTATION IN THE KAL GENE IN PATIENTS WITH X-LINKED KALLMANNS-SYNDROME
Authors: MAYANUNEZ G ZENTENO JC ULLOAAGUIRRE A KOFMANALFARO S MENDEZ JP
Citation: G. Mayanunez et al., A RECURRENT MISSENSE MUTATION IN THE KAL GENE IN PATIENTS WITH X-LINKED KALLMANNS-SYNDROME, The Journal of clinical endocrinology and metabolism, 83(5), 1998, pp. 1650-1653
AUTOSOMAL-DOMINANT INHERITANCE OF ADDUCTED THUMBS AND OTHER DIGITAL ANOMALIES
Authors: MIRANDA A ZENTENO JC SANTIAGO E KOFMANALFARO S
Citation: A. Miranda et al., AUTOSOMAL-DOMINANT INHERITANCE OF ADDUCTED THUMBS AND OTHER DIGITAL ANOMALIES, Clinical genetics, 54(1), 1998, pp. 83-85
2 SRY-NEGATIVE XX MALE BROTHERS WITHOUT GENITAL AMBIGUITY
Authors: ZENTENO JC LOPEZ M VERA C MENDEZ JP KOFMANALFARO S
Citation: Jc. Zenteno et al., 2 SRY-NEGATIVE XX MALE BROTHERS WITHOUT GENITAL AMBIGUITY, Human genetics, 100(5-6), 1997, pp. 606-610
CYTOGENETIC FINDINGS IN 303 MEXICAN PATIENTS WITH DE-NOVO ACUTE MYELOBLASTIC-LEUKEMIA
Authors: ARANATREJO RM GOMEZMORALES E RUBIOBORJA ME KASSACKIPINA JU PEREDO AC GUERRERORIVERA S GONZALEZLLAVEN J GUTIERREZROMERO M PIZZUTOCHAVEZ J KOFMANALFARO S
Citation: Rm. Aranatrejo et al., CYTOGENETIC FINDINGS IN 303 MEXICAN PATIENTS WITH DE-NOVO ACUTE MYELOBLASTIC-LEUKEMIA, Archives of medical research, 28(2), 1997, pp. 209-214
INTERFERON IN THE SUPPRESSION OF PHILADEL PHIA-CHROMOSOME OF CHRONIC MYELOID-LEUKEMIA
Authors: ARANATREJO RM OVILLAMARTINEZ R GOMEZMORALES E MEILLONGARCIA L CERVANTESPEREDO A GONZALEZLLAVEN J PIZZUTOCHAVEZ J KOFMANALFARO S
Citation: Rm. Aranatrejo et al., INTERFERON IN THE SUPPRESSION OF PHILADEL PHIA-CHROMOSOME OF CHRONIC MYELOID-LEUKEMIA, Revista de Investigacion Clinica, 49(3), 1997, pp. 209-214
PHENOTYPICAL EXPRESSION IN XX MALES CORRELATES WITH TESTICULAR RESPONSE TO EXOGENOUS CHORIOGONADOTROPIN IN EARLY INFANCY - DOES A VARIABLE DEGREE OF TESTICULAR FAILURE DETERMINE THE DEGREE OF GENITAL AMBIGUITY
Authors: MENDEZ JP ULLOAAGUIRRE A KOFMANALFARO S CANTO P REYES E DIAZCUETO L PEREZPALACIOS G
Citation: Jp. Mendez et al., PHENOTYPICAL EXPRESSION IN XX MALES CORRELATES WITH TESTICULAR RESPONSE TO EXOGENOUS CHORIOGONADOTROPIN IN EARLY INFANCY - DOES A VARIABLE DEGREE OF TESTICULAR FAILURE DETERMINE THE DEGREE OF GENITAL AMBIGUITY, Archives of andrology, 37(1), 1996, pp. 19-26
ADVANCES IN THE GENETIC PROCESS OF HUMAN SEX-DIFFERENTIATION
Authors: LOPEZLOPEZ M CERVANTESPEREDO A KOFMANALFARO S
Citation: M. Lopezlopez et al., ADVANCES IN THE GENETIC PROCESS OF HUMAN SEX-DIFFERENTIATION, Revista de Investigacion Clinica, 48(2), 1996, pp. 129-137
TRIPHALANGEAL THUMB AND BRACHYECTRODACTYLY SYNDROME - AN UNCOMMON ENTITY WITH EVIDENCE OF GEOGRAPHIC-DISTRIBUTION
Authors: ZENTENO JC AGUINAGA M CHAVEZ V SASTRE N RIVERA MR KOFMANALFARO S
Citation: Jc. Zenteno et al., TRIPHALANGEAL THUMB AND BRACHYECTRODACTYLY SYNDROME - AN UNCOMMON ENTITY WITH EVIDENCE OF GEOGRAPHIC-DISTRIBUTION, Clinical genetics, 50(3), 1996, pp. 152-155
MALE PSEUDOHERMAPHRODITISM DUE TO PRIMARY 5-ALPHA-REDUCTASE DEFICIENCY - VARIATION IN GENDER IDENTITY REVERSAL IN 7 MEXICAN PATIENTS FROM 5DIFFERENT PEDIGREES
Authors: MENDEZ JP ULLOAAGUIRRE A IMPERATOMCGINLEY J BRUGMANN A DELFIN M CHAVEZ B SHACKLETON C KOFMANALFARO S PEREZPALACIOS G
Citation: Jp. Mendez et al., MALE PSEUDOHERMAPHRODITISM DUE TO PRIMARY 5-ALPHA-REDUCTASE DEFICIENCY - VARIATION IN GENDER IDENTITY REVERSAL IN 7 MEXICAN PATIENTS FROM 5DIFFERENT PEDIGREES, Journal of endocrinological investigation, 18(3), 1995, pp. 205-213
SRY ALONE CAN INDUCE NORMAL-MALE SEXUAL-DIFFERENTIATION
Authors: LOPEZ M TORRES L MENDEZ JP CERVANTES A ALFARO G PEREZPALACIOS G ERICKSON RP KOFMANALFARO S
Citation: M. Lopez et al., SRY ALONE CAN INDUCE NORMAL-MALE SEXUAL-DIFFERENTIATION, American journal of medical genetics, 55(3), 1995, pp. 356-358
CLINICAL TRAITS AND MOLECULAR FINDINGS IN 46,XX MALES
Authors: LOPEZ M TORRES L MENDEZ JP CERVANTES A PEREZPALACIOS G ERICKSON RP ALFARO G KOFMANALFARO S
Citation: M. Lopez et al., CLINICAL TRAITS AND MOLECULAR FINDINGS IN 46,XX MALES, Clinical genetics, 48(1), 1995, pp. 29-34
MIXED GONADAL-DYSGENESIS - CLINICAL, CYTOGENETIC, ENDOCRINOLOGIC, ANDHISTOPATHOLOGICAL FINDINGS IN 16 PATIENTS
Authors: MENDEZ JP ULLOAAGUIRRE A KOFMANALFARO S MUTCHINICK O FERNANDEZDELCASTILLO C REYES E PEREZPALACIOS G
Citation: Jp. Mendez et al., MIXED GONADAL-DYSGENESIS - CLINICAL, CYTOGENETIC, ENDOCRINOLOGIC, ANDHISTOPATHOLOGICAL FINDINGS IN 16 PATIENTS, American journal of medical genetics, 46(3), 1993, pp. 263-267
MOLECULAR-DETECTION OF Y-DNA SEQUENCES IN PATIENTS WITH TURNERS-SYNDROME
Authors: LOPEZ ML MALDONADO LCT MENDEZ JP PEREDO AC CETINA PC PEREZPALACIOS G KOFMANALFARO S
Citation: Ml. Lopez et al., MOLECULAR-DETECTION OF Y-DNA SEQUENCES IN PATIENTS WITH TURNERS-SYNDROME, Revista de Investigacion Clinica, 45(3), 1993, pp. 233-239
MALE SEXUAL DEVELOPMENT IN THE ABSENCE OF Y-CHROMOSOMAL SEQUENCES - 2PATIENTS WITH TESTES RATHER THAN OVOTESTES
Authors: TORRES L LOPEZ M MENDEZ JP PEREZPALACIOS G ERICKSON RP KOFMANALFARO S
Citation: L. Torres et al., MALE SEXUAL DEVELOPMENT IN THE ABSENCE OF Y-CHROMOSOMAL SEQUENCES - 2PATIENTS WITH TESTES RATHER THAN OVOTESTES, American journal of human genetics, 53(3), 1993, pp. 513-513
THE SHORT-RIB-POLYDACTYLY SYNDROME TYPE-II - AN AUTOSOMAL INHERITED DISORDER
Authors: GARCIACAVAZOS R DELAFUENTE BE URIBE NO MAYO L DELGADO M DAVIS B KOFMANALFARO S
Citation: R. Garciacavazos et al., THE SHORT-RIB-POLYDACTYLY SYNDROME TYPE-II - AN AUTOSOMAL INHERITED DISORDER, American journal of human genetics, 53(3), 1993, pp. 1545-1545
A 5TH SRY- PATIENT - NORMAL GENITALIA IN ABSENCE OF ZFY( ZFY)
Authors: LOPEZ M TORRES L MENDEZ JP PEREZPALACIOS G ERICKSON RP KOFMANALFARO S
Citation: M. Lopez et al., A 5TH SRY- PATIENT - NORMAL GENITALIA IN ABSENCE OF ZFY( ZFY), American journal of human genetics, 53(3), 1993, pp. 1552-1552
Risultati: 1-23 |