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Genomes and GenesSpecies | Susana Kofman-AlfaroSummaryCountry: Mexico Publications
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Publications
Intracranial germ cell tumors: association with Klinefelter syndrome and sex chromosome aneuploidiesG 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...
Phenotypic heterogeneity associated with identical mutations in residue 870 of the androgen receptorJuan 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...- Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX casesGloria 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.... - 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 syndromeJuan 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... - Genetic services in Mexico CitySusana 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... - Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor geneFelipe 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... - 45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditismKarem Nieto
Department of Genetics, Hospital General de Mexico Facultad de Medicina, UNAM, Mexico City, Mexico
Am J Med Genet A 130:311-4. 2004.... - Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infantsRocío 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... - 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 geneNayelli 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.... - Participation of OCT3/4 and beta-catenin during dysgenetic gonadal malignant transformationIcela 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... - Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63Juan 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... - Molecular analysis of the NDP gene in two families with Norrie diseaseM 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)... - A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivationAlberto 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... - Detection of fusion genes in formalin-fixed paraffin-embedded tissue sections of rhabdomyosarcoma by RT-PCR and fluorescence in situ hybridization in Mexican patientsPilar 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... - Community genetic services in Latin America and regional network of medical genetics. Recommendations of a World Health Organization consultationSusana Kofman-Alfaro
Department of Genetics, General Hospital of Mexico, Faculty of Medicine, , Mexico City, Mexico
Community Genet 7:157-9. 2004.... - A great diversity of Amerindian mitochondrial DNA ancestry is present in the Mexican mestizo populationMariano 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... - Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: cytogenetic and molecular analysis with delineation of the phenotypeG Zafra de la Rosa
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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... - 46,XX sex reversalJ C Zenteno-Ruiz
Department of Genetics, Hospital General de Mexico-Facultad de Medicina, , Mexico City, Mexico
Arch Med Res 32:559-66. 2001.... - Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissueJ 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... - Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequencesPatricia Canto
Research Unit in Developmental Biology, , , Instituto Mexicano del Seguro Social, Cuauhtemoc Av 330, Col Doctores CP 06725, , DF,
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... - Extragonadal germ cell tumors are often associated with Klinefelter syndromeDavid Aguirre
, Mexico City
Hum Pathol 37:477-80. 2006..We propose that in young patients with mediastinal teratoma, a cytogenetic analysis must always be performed... - Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotypeGloria Queipo
Department of Human Genetics, ,
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... - Microsatellite analysis in Turner syndrome: parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomesNancy Monroy
, , UNAM, , D.F,
Am J Med Genet 107:181-9. 2002.... - Point mutation in the STS gene in a severely affected patient with X-linked recessive ichthyosisLuz M Gonzalez-Huerta
Acta Derm Venereol 86:78-9. 2006