| 1 | Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature | Coautor: Kofman S., Gómez-Laguna L., Martínez-Herrera A., Reyes-de la Rosa A.D.P., et al. | 2018 | OPHTHALMIC GENETICS | WoS-id: 000428520500011
Scopus-id: 2-s2.0-85029587680
| 6 | 7 |
| 2 | Congenital hypertrichosis universalis in Mexican female twins | Coautor: Kofman, Susana, Cervantes, Alicia, Garcia-Delgado, Constanza, Fernandez-Ramirez, Fernando, et al. | 2016 | INTERNATIONAL JOURNAL OF DERMATOLOGY | WoS-id: 000368089600007
Scopus-id: 2-s2.0-84953835011
| 2 | 2 |
| 3 | Characterization of a group unrelated patients with arthrogryposis multiplex congenita | Coautor: Kofman, Susana, Valdes-Flores, Margarita, Casas-Avila, Leonora, Hernandez-Zamora, Edgar, et al. | 2016 | JORNAL DE PEDIATRIA | WoS-id: 000371471300010
Scopus-id: 2-s2.0-84960810308
| 7 | 10 |
| 4 | CDKN3 mRNA as a biomarker for survival and therapeutic target in cervical cancer | Coautor: Kofman S., Barrón E.V., Roman-Bassaure E., Sánchez-Sandoval A.L., et al. | 2015 | PLOS ONE | WoS-id: 000361604400020
Scopus-id: 2-s2.0-84945916011
| 31 | 28 |
| 5 | A Boolean network model of human gonadal sex determination | Coautor: Kofman S., Ríos O., Frias S., Rodríguez A., et al. | 2015 | THEORETICAL BIOLOGY AND MEDICAL MODELLING | WoS-id: 000364754700001
Scopus-id: 2-s2.0-84960333621
| 33 | 34 |
| 6 | Impact of gene dosage on gene expression, biological processes and survival in cervical cancer: A genome-wide follow-up study | Coautor: Kofman S., Medina-Martinez I., Barrón V., Roman-Bassaure E., et al. | 2014 | PLOS ONE | WoS-id: 000338101500025
Scopus-id: 2-s2.0-84902302974
| 42 | 44 |
| 7 | Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): Further delineation of the syndromes | Coautor: Kofman S., Cervantes A., García-Delgado C., Fernández-Ramírez F., et al. | 2014 | BMC MEDICAL GENOMICS | WoS-id: 000342094500001
Scopus-id: 2-s2.0-84908160780
| 3 | 4 |
| 8 | 19q13.11 microdeletion concomitant with ins (2;19)(p25.3;q13.1q13.4)dn in a boy: Potential role of UBA2 in the associated phenotype | Coautor: Kofman S., Venegas-Vega C., Nieto-Martínez K., Martínez-Herrera A., et al. | 2014 | MOLECULAR CYTOGENETICS | WoS-id: 000347350100001
Scopus-id: 2-s2.0-84989311431
| 15 | 15 |
| 9 | Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques | Coautor: Kofman S., Venegas-Vega C.A., Fernández-Ramírez F., Zepeda L.M., et al. | 2013 | BIOMED RESEARCH INTERNATIONAL | WoS-id: 000314934600001
Scopus-id: 2-s2.0-84874608265
| 3 | 5 |
| 10 | Mitosis Is a Source of Potential Markers for Screening and Survival and Therapeutic Targets in Cervical Cancer | Coautor: Kofman S., Espinosa A.M., Alfaro A., Roman-Basaure E., et al. | 2013 | PLOS ONE | WoS-id: 000315153400186
Scopus-id: 2-s2.0-84873545520
| 75 | 78 |
| 11 | Prevalence of mosaicism for trisomy 21 and cytogenetic variant analysis in patients with clinical diagnosis of down syndrome: A 24-year review (1986-2010) at the servicio de genética, hospital general de México "Dr. Eduardo Liceaga" | Coautor: Kofman-Epstein S., Garduño-Zarazúa L.M., Giammatteo Alois L., Peredo A.B.C. | 2013 | BOLETIN MEDICO DEL HOSPITAL INFANTIL DE MEXICO | Scopus-id: 2-s2.0-84877098273
| 0 | 6 |
| 12 | Amplified Genes May Be Overexpressed, Unchanged, or Downregulated in Cervical Cancer Cell Lines | Coautor: Kofman S., Vazquez-Mena O., Medina-Martinez I., Juárez-Torres E., et al. | 2012 | PLOS ONE | WoS-id: 000303060800039
Scopus-id: 2-s2.0-84857856392
| 40 | 43 |
| 13 | The Amerindian mtDNA haplogroup B2 enhances the risk of HPV for cervical cancer: de-regulation of mitochondrial genes may be involved | Coautor: Kofman S., Guardado-Estrada M., Medina-Martínez I., Juárez-Torres E., et al. | 2012 | JOURNAL OF HUMAN GENETICS | WoS-id: 000303416800010
Scopus-id: 2-s2.0-84860288329
| 44 | 46 |
| 14 | P450C17 (CYP17) DEFICIENCY IN NATIVE MEXICAN PATIENT WITH A NOVEL CYP17A1 MUTATION | Coautor: Alfaro, SK, Perez, EGD, del Rincon, LG, Loza, OTM, et al. | 2011 | ENDOCRINE PRACTICE | WoS-id: 000289272700015
Scopus-id: 2-s2.0-79952403162
| 2 | 3 |
| 15 | Detection of Fusion Genes in Formalin-fixed Paraffin-embedded Tissue Sections of Rhabdomyosarcoma by RT-PCR and Fluorescence In Situ Hybridization in Mexican Patients | Coautor: Kofman-Alfaro, S, Eguia-Aguilar, P, Ponce-Castaneda, V, Najera-Garcia, N, et al. | 2010 | Archives Of Medical Research | WoS-id: 000277930800008
Scopus-id: 2-s2.0-77952765722
| 5 | 6 |
| 16 | Mix Gonadal Dysgenesis Associated with Ring Y Chromosome Mosaics in a Phenotypic Male | Coautor: Kofman-Alfaro, S, Lopez-Valdes, JA, Nieto, K, Najera, N, et al. | 2009 | SEXUAL DEVELOPMENT | WoS-id: 000269789400001
Scopus-id: 2-s2.0-70349272265
| 4 | 7 |
| 17 | SNRPN methylation analysis to detect Prader Willi syndrome in neonates with hypotonia | Coautor: Kofman, SE, Gonzalez, ML, Queipo, GE, Pastrana, Y, et al. | 2009 | HORM RES | WoS-id: 000270489900244
| 0 | 0 |
| 18 | Loss of Cytochrome P450 17A1 Protein Expression in a 17 alpha-Hydroxylase/17,20-Lyase-Deficient 46,XY Female Caused by Two Novel Mutations in the CYP17A1 Gene | Coautor: Kofman-Alfaro S., Nájera N., Garibay N., Pastrana Y., et al. | 2009 | ENDOCR PATHOL | WoS-id: 000271529900008
Scopus-id: 2-s2.0-70449527540
| 12 | 11 |
| 19 | Satoyoshi Syndrome With Unusual Skeletal Abnormalities and Parental Consanguinity | Coautor: Kofman-Alfaro S., Venegas-Vega C.A., Rivera-Vega M.R., Cuevas-Covarrubias S., et al. | 2009 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000271587600015
Scopus-id: 2-s2.0-70449346630
| 7 | 9 |
| 20 | A great diversity of Amerindian mitochondrial DNA ancestry is present in the Mexican mestizo population | Coautor: Kofman-Alfaro S., Guardado-Estrada M., Juarez-Torres E., Medina-Martinez I., et al. | 2009 | JOURNAL OF HUMAN GENETICS | WoS-id: 000273407800002
Scopus-id: 2-s2.0-73549125579
| 26 | 29 |
| 21 | Participation of OCT3/4 and beta-catenin during dysgenetic gonadal malignant transformation | Coautor: Kofman-Alfaro S., Palma I., Pena, RY, Contreras A., et al. | 2008 | CANCER LETTERS | WoS-id: 000255810500007
Scopus-id: 2-s2.0-41849105025
| 18 | 17 |
| 22 | Intracranial germ cell tumors: association with Klinefelter syndrome and sex chromosome aneuploidies | Coautor: Kofman-Alfaro S., Queipo G., Aguirre D., Nieto K., et al. | 2008 | CYTOGENETIC AND GENOME RESEARCH | WoS-id: 000259032000007
Scopus-id: 2-s2.0-50849108549
| 16 | 28 |
| 23 | A de novo phe67leu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis | Coautor: Kofman S., Zenteno J.C., Carranza-Lira S., Jiménez A.L. | 2003 | JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION | Scopus-id: 2-s2.0-1042304269
| 0 | 6 |
| 24 | BCR/ABL p210, p190 and p230 fusion genes in 250 Mexican patients with chronic myeloid leukaemia (CML) | Coautor: Kofman S., Arana-Trejo R.M., Ruíz Sánchez E., Ignacio-Ibarra G., et al. | 2002 | CLIN LAB HAEMATOL | Scopus-id: 2-s2.0-0036277787
| 22 | 49 |
| 25 | Del Xq23 in a mosaic Turner female: Molecular and cytogenetic studies | Coautor: Kofman S., Mesa-Cornejo V.M., García-Cruz D., Monroy-Jaramillo N., et al. | 2001 | ANN GENET-PARIS | WoS-id: 000172999400002
Scopus-id: 2-s2.0-0035662872
| 2 | 2 |
| 26 | A t(1;22)(p13;q13) in four children with acute megakaryoblastic leukemia (M7), two with Down syndrome | Coautor: Kofman S., Trejo R.M.A., Aguilera R.P., Nieto S. | 2000 | CANCER GENET CYTOGEN | WoS-id: 000088925000013
Scopus-id: 2-s2.0-0034661191
| 10 | 18 |
| 27 | Genetic features of Mexican women predisposing to cancer of the uterine cervix | Coautor: Kofman S., Silva B., Vargas-Alarcón G., Zúñiga-Ramos J., et al. | 1999 | HUMAN PATHOLOGY | WoS-id: 000080836900006
Scopus-id: 2-s2.0-0032993172
| 12 | 10 |
| 28 | Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystropy patients: The use of new designed primers for the analysis of the major deletion 'hot spot' region | Coautor: Kofman S., Coral-Vazquez R., Arenas D., Cisneros B., et al. | 1997 | AM J MED GENET | WoS-id: A1997XC53700005
Scopus-id: 2-s2.0-0030963078
| 14 | 16 |
| 29 | Estudio inmunogenético en parejas mexicanas con abortos esponta"neos recurrentes | Coautor: Kofman S., Silva B., Yamamoto-Furusho J.K., Grether P., et al. | 1997 | REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION | WoS-id: A1997XT74000003
Scopus-id: 2-s2.0-3242862857
| 0 | 0 |
| 30 | Carrier detection in Duchenne and Becker muscular dystrophy using dinucleotide repeat polymorphisms. A study in Mexican families | Coautor: Kofman S., Arenas D., Coral R., Cisneros B., et al. | 1996 | Archives Of Medical Research | WoS-id: A1996UR31800009
Scopus-id: 2-s2.0-0029890307
| 3 | 4 |
| 31 | Analysis of dystrophin gene deletions in patients from the Mexican population with Duchenne/Becker muscular dystrophy | Coautor: Kofman S., Coral-Vazquez R., Arenas D., Cisneros B., et al. | 1993 | Archives Of Medical Research | Scopus-id: 2-s2.0-0027753309
| 0 | 9 |
| 32 | Distribution of ABO blood groups and other genetic markers in mothers of infants with congenital malformations | Coautor: Kofman S., Lisker R., Mutchinick O., Pérez-Briceño R., et al. | 1982 | HUMAN HEREDITY | WoS-id: A1982NV22300004
Scopus-id: 2-s2.0-0019997696
| 6 | 3 |
| 33 | Clinical and endocrine spectrum in patients with the 45,X/46,XY karyotype | 1ᵉʳ autor: Kofman S., Pérez-Palacios G., Medina M., Escobar N., et al. | 1981 | HUMAN GENETICS | WoS-id: A1981MP17900005
Scopus-id: 2-s2.0-0019486991
| 22 | 20 |
| 34 | Progressive fibrodysplasia assificans [Fibrodisplasia osificante progresiva.] | Coautor: Kofman S., Mallet Arellano A., Vergara M.D., Espinosa A. | 1978 | BOLETIN MEDICO DEL HOSPITAL INFANTIL DE MEXICO | Scopus-id: 2-s2.0-0018016066
| 0 | 0 |
ID's SCOPUS 