Susana Kofman-Alfaro

Summary

Country: Mexico

Publications

  1. doi request reprint Intracranial germ cell tumors: association with Klinefelter syndrome and sex chromosome aneuploidies
    G Queipo
    Departments of Human Genetics and Pathology, Hospital General de Mexico, Mexico City, Mexico
    Cytogenet Genome Res 121:211-4. 2008
  2. ncbi request reprint Phenotypic heterogeneity associated with identical mutations in residue 870 of the androgen receptor
    Juan Carlos Zenteno
    Servicio de Genetica, Hospital General de Mexico, Facultad de Medicina, UNAM, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico, D F, Mexico
    Horm Res 57:90-3. 2002
  3. ncbi request reprint Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases
    Gloria Queipo
    Hospital General de Mexico Facultad de Medicina, UNAM, Dr Balmis 148 Col Doctores CP 06726, Mexico City, Mexico
    Hum Genet 111:278-83. 2002
  4. ncbi request reprint Molecular analysis of the anti-Müllerian hormone, the anti-Müllerian hormone receptor, and galactose-1-phosphate uridyl transferase genes in patients with the Mayer-Rokitansky-Küster-Hauser syndrome
    Juan Carlos Zenteno
    Department of Genetics, Hospital General de Mexico Facultad de Medicina UNAM, Dr Balmis 148, Col Doctores, 06726 Mexico City, Mexico
    Arch Gynecol Obstet 269:270-3. 2004
  5. ncbi request reprint Genetic services in Mexico City
    Susana Kofman-Alfaro
    Department of Genetics, General Hospital of Mexico, Faculty of Medicine, Universidad Nacional Autonoma de Mexico, Mexico City, Mexico
    Community Genet 7:142-5. 2004
  6. ncbi request reprint Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene
    Felipe Vilchis
    Department of Reproductive Biology, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Vasco de Quiroga 15, Tlalpan C P 14000, Mexico D F, Mexico
    J Hum Genet 48:346-51. 2003
  7. ncbi request reprint 45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism
    Karem Nieto
    Department of Genetics, Hospital General de Mexico Facultad de Medicina, UNAM, Mexico City, Mexico
    Am J Med Genet A 130:311-4. 2004
  8. ncbi request reprint Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants
    Rocío Peña-Alonso
    Department of Pathology, Hospital Infantil de Mexico Federico Gomez, Mexico City, Mexico
    Mod Pathol 18:439-45. 2005
  9. doi request reprint Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene
    Nayelli Nájera
    Department of Human Genetics, Hospital General de México Facultad de Medicina Universidad Nacional Autónoma de México, Mexico City, Mexico
    Endocr Pathol 20:249-55. 2009
  10. doi request reprint Participation of OCT3/4 and beta-catenin during dysgenetic gonadal malignant transformation
    Icela Palma
    Department of Genetics, Hospital General de Mexico Facultad de Medicina, Universidad Nacional Autonoma de Mexico, UNAM, Dr Balmis 148 Col Doctores, 06726 Mexico, Mexico
    Cancer Lett 263:204-11. 2008

Collaborators

  • Juan Carlos Zenteno
  • Felipe Vilchis
  • J P Mendez
  • Osvaldo M Mutchinick
  • Sebastian Carranza-Lira
  • A Cervantes
  • Patricia Canto
  • Marisol Lopez
  • Gloria Queipo
  • Icela Palma
  • Karem Nieto
  • Luis Eraña
  • Nayelli Nájera
  • Rebeca Alvarez
  • Luis M Dorantes
  • Pilar Eguía-Aguilar
  • Mariano Guardado-Estrada
  • Ninel Coyote
  • G Queipo
  • David Aguirre
  • Luz M Gonzalez-Huerta
  • Rocío Peña-Alonso
  • G Zafra de la Rosa
  • M Refugio Rivera-Vega
  • Alberto Hidalgo-Bravo
  • Rocío Peña
  • Nancy Monroy
  • J C Zenteno-Ruiz
  • Veronica Ponce-Castaneda
  • Nayelli Nájera-García
  • Pedro Valencia-Mayoral
  • Francisco Arenas-Huertero
  • Stanislaw Sadowinski-Pine
  • Mario Perezpeña-Diazconti
  • Karem Nieto-Martínez
  • Daniel Piñero
  • Edgar Román-Bassaure
  • Alberto Hidalgo
  • Javier Perez
  • Ana Wegier
  • Jaime Berumen
  • Ingrid Medina-Martinez
  • Eligia Juarez-Torres
  • Yolanda Rocio Peña
  • Yadira Pastrana
  • Guillermo Gomez
  • Nayely Garibay
  • Fernando Cruz-Talonia
  • Antonio Macias
  • Y R Peña
  • N Najera
  • I Palma
  • D Aguirre
  • J Olvera
  • Guillermo Ceballos-Reyes
  • Alejandra Contreras
  • K Nieto
  • Rocio Yolanda Peña
  • L Chavez
  • María R Rivera-Vega
  • Olga M Messina-Baas
  • Y Rocio Peña
  • Jaime Toral-Lopez
  • Sergio A Cuevas-Covarrubias
  • Minerva Lazos
  • Yolanda R Peña
  • N Monroy
  • Silvet Chiñas-Lopez
  • U Friedrich
  • M Luz Arenas-Sordo
  • Patricia Grether
  • P Fernandez
  • M Houman
  • Ericka N Pompa-Mera
  • Cesar R Gonzalez-Bonilla
  • Ana Luisa Jimenez Vaca
  • A Saad
  • G Contreras-Bucio
  • C A Venegas-Vega
  • Sara Frias
  • Olga Messina-Baas
  • Sergio Alberto Cuevas-Covarrubias
  • Ricardo García-Cavazos
  • Gildardo Zafra
  • Guillermo Ramon
  • Ana L Jimenez
  • Esther Lieberman
  • Sonia Canún
  • Diana Garcia-Cruz
  • Karen Nieto

Detail Information

Publications24

  1. doi request reprint Intracranial germ cell tumors: association with Klinefelter syndrome and sex chromosome aneuploidies
    G Queipo
    Departments of Human Genetics and Pathology, Hospital General de Mexico, Mexico City, Mexico
    Cytogenet Genome Res 121:211-4. 2008
    ..When tumor and non-tumor tissues were compared, statistically significant X and Y chromosome polyploidies in tumors were revealed. These results emphasize that aneuploidies are involved in ICGCT tumorigenesis...
  2. ncbi request reprint Phenotypic heterogeneity associated with identical mutations in residue 870 of the androgen receptor
    Juan Carlos Zenteno
    Servicio de Genetica, Hospital General de Mexico, Facultad de Medicina, UNAM, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico, D F, Mexico
    Horm Res 57:90-3. 2002
    ..Here, we studied a patients with an AIS characterized by bilateral gynecomastia, normal male external genitalia, and normal sperm counts...
  3. ncbi request reprint Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases
    Gloria Queipo
    Hospital General de Mexico Facultad de Medicina, UNAM, Dr Balmis 148 Col Doctores CP 06726, Mexico City, Mexico
    Hum Genet 111:278-83. 2002
    ....
  4. ncbi request reprint Molecular analysis of the anti-Müllerian hormone, the anti-Müllerian hormone receptor, and galactose-1-phosphate uridyl transferase genes in patients with the Mayer-Rokitansky-Küster-Hauser syndrome
    Juan Carlos Zenteno
    Department of Genetics, Hospital General de Mexico Facultad de Medicina UNAM, Dr Balmis 148, Col Doctores, 06726 Mexico City, Mexico
    Arch Gynecol Obstet 269:270-3. 2004
    ..It has been suggested that activating mutations in the anti-Müllerian hormone (AMH) or in its receptor (AMHRII) are potential sources for the defect...
  5. ncbi request reprint Genetic services in Mexico City
    Susana Kofman-Alfaro
    Department of Genetics, General Hospital of Mexico, Faculty of Medicine, Universidad Nacional Autonoma de Mexico, Mexico City, Mexico
    Community Genet 7:142-5. 2004
    ..We also comment on the deficiencies identified and suggest recommendations to improve the quality of the genetic services offered to the Mexican population...
  6. ncbi request reprint Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene
    Felipe Vilchis
    Department of Reproductive Biology, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Vasco de Quiroga 15, Tlalpan C P 14000, Mexico D F, Mexico
    J Hum Genet 48:346-51. 2003
    ..This disorder represents the first insertion/deletion mutation of the AR that probably arose by a slipped-strand mispairing mechanism...
  7. ncbi request reprint 45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism
    Karem Nieto
    Department of Genetics, Hospital General de Mexico Facultad de Medicina, UNAM, Mexico City, Mexico
    Am J Med Genet A 130:311-4. 2004
    ....
  8. ncbi request reprint Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants
    Rocío Peña-Alonso
    Department of Pathology, Hospital Infantil de Mexico Federico Gomez, Mexico City, Mexico
    Mod Pathol 18:439-45. 2005
    ..Our cases demonstrate that tumors could be present at a very early age, so the prophylactic removal of the gonads is advised...
  9. doi request reprint Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene
    Nayelli Nájera
    Department of Human Genetics, Hospital General de México Facultad de Medicina Universidad Nacional Autónoma de México, Mexico City, Mexico
    Endocr Pathol 20:249-55. 2009
    ....
  10. doi request reprint Participation of OCT3/4 and beta-catenin during dysgenetic gonadal malignant transformation
    Icela Palma
    Department of Genetics, Hospital General de Mexico Facultad de Medicina, Universidad Nacional Autonoma de Mexico, UNAM, Dr Balmis 148 Col Doctores, 06726 Mexico, Mexico
    Cancer Lett 263:204-11. 2008
    ..We conclude that the proliferation of immature germ cells in GB may be due to an interaction between OCT3/4 and accumulated beta-catenin in the nuclei of the immature germ cells...
  11. ncbi request reprint Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63
    Juan Carlos Zenteno
    Department of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico
    Am J Med Genet A 134:74-6. 2005
    ..Based on the genotype-phenotype correlation observed in our patient, we hypothesize that integrity of the TA domain of Tp63 is critical for normal limb development...
  12. ncbi request reprint Molecular analysis of the NDP gene in two families with Norrie disease
    M Refugio Rivera-Vega
    Department of Genetics, General Hospital of Mexico, Faculty of Medicine, University of Mexico, Mexico City, Mexico
    Acta Ophthalmol Scand 83:210-4. 2005
    ..To describe the molecular defects in the Norrie disease protein (NDP) gene in two families with Norrie disease (ND)...
  13. ncbi request reprint A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation
    Alberto Hidalgo-Bravo
    Department of Genetics, Hospital General de Mexico Facultad de Medicina, UNAM, Mexico City
    Am J Med Genet A 136:190-3. 2005
    ..Our results add to the molecular spectrum of the oto-palato-digital related syndromes and contribute to the delineation of phenotype-genotype correlation in this group of X-linked skeletal disorders...
  14. doi request reprint Detection of fusion genes in formalin-fixed paraffin-embedded tissue sections of rhabdomyosarcoma by RT-PCR and fluorescence in situ hybridization in Mexican patients
    Pilar Eguía-Aguilar
    Departamento de Patologia, Hospital Infantil de Mexico Federico Gomez, Mexico, D F, Mexico
    Arch Med Res 41:119-24. 2010
    ..The majority but not all ARMS carry the specific PAX3(7)/FKHR translocation. The type of translocation in patients with ARMS defines the prognosis...
  15. ncbi request reprint Community genetic services in Latin America and regional network of medical genetics. Recommendations of a World Health Organization consultation
    Susana Kofman-Alfaro
    Department of Genetics, General Hospital of Mexico, Faculty of Medicine, Universidad Nacional Autonoma de Mexico, Mexico City, Mexico
    Community Genet 7:157-9. 2004
    ....
  16. doi request reprint A great diversity of Amerindian mitochondrial DNA ancestry is present in the Mexican mestizo population
    Mariano Guardado-Estrada
    Facultad de Medicina, UNAM, Mexico City, Mexico
    J Hum Genet 54:695-705. 2009
    ..The present knowledge combined with other nuclear genetic markers will be essential in future association studies to correct for genetic substructure in mestizo populations...
  17. ncbi request reprint Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: cytogenetic and molecular analysis with delineation of the phenotype
    G Zafra de la Rosa
    Genetica, Hospital Español de México, Mexico City, Mexico
    Am J Med Genet A 136:259-64. 2005
    ..The phenotype observed in our patient resulted from the combination of those defects described in the isolated dup(3q) and distal del(8p) syndromes...
  18. ncbi request reprint 46,XX sex reversal
    J C Zenteno-Ruiz
    Department of Genetics, Hospital General de Mexico-Facultad de Medicina, , Mexico City, Mexico
    Arch Med Res 32:559-66. 2001
    ....
  19. ncbi request reprint Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue
    J C Zenteno
    Departamento de Genetica, , UNAM, Mexico City, Mexico
    Am J Med Genet 99:244-7. 2001
    ..Our results add to previous findings indicating that molecular defects in SRY are not readily identified as a cause of these syndromes...
  20. ncbi request reprint Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences
    Patricia Canto
    Research Unit in Developmental Biology, Hospital de Pediatria, Centro Medico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Cuauhtemoc Av 330, Col Doctores CP 06725, Mexico, DF, Mexico
    Cancer Genet Cytogenet 150:70-2. 2004
    ..Because of the high proportion (33%) of gonadal tumors in patients with Y-chromosome sequences found among our patients of mestizo origin, adequate counseling regarding a gonadectomy should be given...
  21. ncbi request reprint Extragonadal germ cell tumors are often associated with Klinefelter syndrome
    David Aguirre
    Department of Pathology Hospital General de México School of Medicine Universidad Nacional Autonoma de México, Mexico City
    Hum Pathol 37:477-80. 2006
    ..We propose that in young patients with mediastinal teratoma, a cytogenetic analysis must always be performed...
  22. ncbi request reprint Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype
    Gloria Queipo
    Department of Human Genetics, Hospital General de Mexico, Mexico
    Am J Med Genet A 136:386-9. 2005
    ..FISH analysis of the paternal Y chromosome documented Yq paracentric inversion while the patient's karyotype was 45,X/46,X,idic(Yp). No mutations were observed in MIS/MISRII genes...
  23. ncbi request reprint Microsatellite analysis in Turner syndrome: parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes
    Nancy Monroy
    Servicio de Genetica, Hospital General de Mexico Facultad de Medicina, UNAM, Mexico, D F, Mexico
    Am J Med Genet 107:181-9. 2002
    ....
  24. ncbi request reprint Point mutation in the STS gene in a severely affected patient with X-linked recessive ichthyosis
    Luz M Gonzalez-Huerta
    Acta Derm Venereol 86:78-9. 2006