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1

Loss of Cytochrome P450 17A1 Protein Expression in a 17α-Hydroxylase/17,20-Lyase-Deficient 46,XY Female Caused by Two Novel Mutations in theCYP17A1Gene

Nayelli Nájera, Nayely Garibay, Yadira Pastrana, Icela Palma, Yolanda-Rocio Peña, Javier Pérez, Ninel Coyote, Alberto Hidalgo, Susana Kofman-Alfaro, Gloria Queipo

Journal:

Endocrine Pathology

Year:

2009

Language:

english

File:

PDF, 569 KB

english, 2009

2

Are Atopy and Palm-Sole Hyperlinearity Clinical Tools in the Differential Diagnosis between Ichthyosis Vulgaris and X-Linked Ichthyosis?

Cuevas-Covarrubias, Sergio A., Valdés-Flores, Margarita, Orozco, Esther Orozco, Díaz-Zagoya, Juan C., Kofman-Alfaro, Susana H.

Journal:

The Journal of Dermatology

Year:

1998

Language:

english

File:

PDF, 154 KB

english, 1998

3

An atypical contiguous gene syndrome: molecular studies in a family with X–linked Kallmann's syndrome and X-linked ichthyosis

Guadalupe Maya-Nuñez, Leda Torres, Alfredo Ulloa-Aguirre, Juan Carlos Zenteno, Sergio Cuevas-Covarrubias, Dolores Saavedra-Ontiveros, Susana Kofman-Alfaro, Juan Pablo Méndez

Journal:

Clinical Endocrinology

Year:

1999

Language:

english

File:

PDF, 202 KB

english, 1999

4

Community Genetic Services in Latin America and Regional Network of Medical Genetics

Kofman-Alfaro, Susana, Penchaszadeh, Victor B.

Journal:

Community Genetics

Year:

2004

Language:

english

File:

PDF, 47 KB

english, 2004

5

Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes

Nancy Monroy, Marisol López, Alicia Cervantes, Diana García-Cruz, Gildardo Zafra, Sonia Canún, Juan Carlos Zenteno, Susana Kofman-Alfaro

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 168 KB

english, 2002

6

Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon

Felipe Vilchis, Luis Ramos, Susana Kofman-Alfaro, Juan Carlos Zenteno, Juan Pablo Méndez, Bertha Chávez

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 380 KB

english, 2003

7

Molecular analysis of the NDP gene in two families with Norrie disease

M Refugio Rivera-Vega, Silvet Chiñas-Lopez, Ana Luisa Jimenez Vaca, M Luz Arenas-Sordo, Susana Kofman-Alfaro, Olga Messina-Baas, Sergio Alberto Cuevas-Covarrubias

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2005

Language:

english

File:

PDF, 1018 KB

english, 2005

8

45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism

Karem Nieto, Rocío Peña, Icela Palma, Luis M. Dorantes, Luis Eraña, Rebeca Alvarez, Ricardo García-Cavazos, Susana Kofman-Alfaro, Gloria Queipo

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 147 KB

english, 2004

9

Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype

Gloria Queipo, Karem Nieto, Patricia Grether, Sara Frías, Rebeca Álvarez, Icela Palma, Luis Eraña, Yolanda R. Peña, Susana Kofman-Alfaro

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 148 KB

english, 2005

10

SRY alone can induce normal male sexual differentiation

Marisol López, Leda Torres, Juan P. Méndez, Alicia Cervantes, Guillermo Alfaro, Gregorio Pérez-Palacios, Robert P. Erickson, Susana Kofman-Alfaro

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 318 KB

english, 1995

11

Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases

Gloria Queipo, Juan Zenteno, Rocío Peña, Karen Nieto, Alejandro Radillo, Luis Dorantes, Luis Eraña, Esther Lieberman, Daniela Söderlund, Ana Jiménez, Guillermo Ramón, Susana Kofman-Alfaro

Journal:

Year:

2002

Language:

english

File:

PDF, 118 KB

english, 2002

12

Participation of OCT3/4 and β-catenin during dysgenetic gonadal malignant transformation

Icela Palma, Rocio-Yolanda Peña, Alejandra Contreras, Guillermo Ceballos-Reyes, Ninel Coyote, Luis Eraña, Susana Kofman-Alfaro, Gloria Queipo

Journal:

Year:

2008

Language:

english

File:

PDF, 1.69 MB

english, 2008

13

Inguinal Hernia in Recessive X-Linked Ichthyosis

Cuevas-Covarrubias, Sergio Alberto, Kofman-Alfaro, Susana Heren, Rivera-Vega, María Del Refugio, Palencia, Angélica Beirana, Díaz-Zagoya, Juan Cuauhtémoc

Journal:

The Journal of Dermatology

Year:

1994

Language:

english

File:

PDF, 87 KB

english, 1994

14

Clinical traits and molecular findings in 46,XX males

Marisol López, Leda Torres, Juan Pablo Méndez, Alicia Cervantes, Gregorio Pérez-Palacios, Robert P. Erickson, Guillermo Alfaro, Susana Kofman-Alfaro

Journal:

Clinical Genetics

Year:

1995

Language:

english

File:

PDF, 634 KB

english, 1995

15

Kallmann syndrome (hypogonadotropism-anosmia) and Klippel-Feil anomaly in the same patient

Zenteno, Juan Carlos, Venegas, Carlos, Santiago, Efrain, Kofman-Alfaro, Susana

Journal:

Clinical Dysmorphology

Year:

2000

File:

PDF, 876 KB

2000

16

Molecular analysis in true hermaphrodites with different karyotypes and similar phenotypes

Torres, Leda, López, Marisol, Méndez, Juan Pablo, Canto, Patricia, Cervantes, Alicia, Alfaro, Guillermo, Pérez-Palacios, Gregorio, Erickson, Robert P., Kofman-Alfaro, Susana

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 771 KB

1996

17

Mixed gonadal dysgenesis: Clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients

Juan Pablo Méndez, Alfredo Ulloa-Aguirre, Susana Kofman-Alfaro, Osvaldo Mutchinick, Carlos Fernández-del-Castillo, Edgardo Reyes, Gregorio Pérez-Palacios

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 401 KB

english, 1993

18

Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome

M. Refugio Rivera-Vega, N. Leyva Juarez, Sergio A. Cuevas-Covarrubias, Susana H. Kofman-Alfaro

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 437 KB

english, 1996

19

Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome

L�pez, Marisol, Canto, Patricia, Aguinaga, M�nica, Torres, Leda, Cervantes, Alicia, Alfaro, Guillermo, M�ndez, Juan Pablo, Kofman-Alfaro, Susana

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 297 KB

english, 1998

20

A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation

Alberto Hidalgo-Bravo, Ericka N. Pompa-Mera, Susana Kofman-Alfaro, Cesar R. Gonzalez-Bonilla, Juan Carlos Zenteno

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 115 KB

english, 2005

21

Scant XYqh− testicular cells with normal SRY was enough to differentiate bilateral testes in a 45,X/46,XYqh− patient

Juan Pablo Méndez, Patricia Canto, Marisol López, Elsa de la Chesnaye, Leda Torres, Bertha Chávez, Alfredo Ulloa-Aguirre, Susana Kofman-Alfaro

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

1999

Language:

english

File:

PDF, 202 KB

english, 1999

22

Steroid sulfatase activity in leukocytes: a comparative study in 45,X; 46,Xi(Xq) and carriers of steroid sulfatase deficiency

Antonio Miranda-Duarte, Margarita Valdés-Flores, Rodrigo Miranda-Zamora, Juan C. Díaz-Zagoya, Susana H. Kofman-Alfaro, Sergio A. Cuevas-Covarrubias

Journal:

Year:

1999

Language:

english

File:

PDF, 265 KB

english, 1999

23

Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences

Patricia Canto, Susana Kofman-Alfaro, Ana Luisa Jiménez, Daniela Söderlund, Consuelo Barrón, Edgardo Reyes, Juan Pablo Méndez, Juan Carlos Zenteno

Journal:

Cancer Genetics and Cytogenetics

Year:

2004

Language:

english

File:

PDF, 149 KB

english, 2004

24

Somatic and Germinal Mosaicism for the Steroid Sulfatase Gene Deletion in a Steroid Sulfatase Deficiency Carrier

Cuevas-Covarrubias, Sergio Alberto, Jimenez-Vaca, Ana Luisa, Gonzalez-Huerta, Luz Maria, Valdes-Flores, Margarita, del Refugio Rivera-Vega, Maria, Maya-Nunez, Guadalupe, Kofman-Alfaro, Susana H.

Journal:

The Journal of Investigative Dermatology

Year:

2002

Language:

english

File:

PDF, 101 KB

english, 2002

25

Extragonadal germ cell tumors are often associated with Klinefelter syndrome

David Aguirre, Karem Nieto, Minerva Lazos, Y. Rocio Peña, Icela Palma, Susana Kofman-Alfaro, Gloria Queipo

Journal:

Human Pathology

Year:

2006

Language:

english

File:

PDF, 308 KB

english, 2006

26

Radiation-initiated DNA synthesis in spermatogenic cells of the mouse

Susana Kofman-Alfaro, Ann C. Chandley

Journal:

Experimental Cell Research

Year:

1971

Language:

english

File:

PDF, 6.20 MB

english, 1971

27

A Mutation in the 5′ Non-High Mobility Group Box Region of the SRY Gene in Patients with Turner Syndrome and Y Mosaicism 1

Canto, Patricia, de la Chesnaye, Elsa, López, Marisol, Cervantes, Alicia, Chávez, Bertha, Vilchis, Felipe, Reyes, Edgardo, Ulloa-Aguirre, Alfredo, Kofman-Alfaro, Susana, Méndez, Juan Pablo

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2000

Language:

english

File:

PDF, 186 KB

english, 2000

28

“Unscheduled” DNA synthesis in human germ cells following UV irradiation

Ann C. Chandley, Susana Kofman-Alfaro

Journal:

Experimental Cell Research

Year:

1971

Language:

english

File:

PDF, 1.75 MB

english, 1971

29

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, Verónica Ponce-Castañeda, Nayelli Nájera-García, Karem Nieto-Martínez, Susana Kofman-Alfaro, Stanislaw Sadowinski-Pine, Pedro Valencia-Mayoral, Francisco Arenas-Huertero, Mario Pe

Journal:

Archives of Medical Research

Year:

2010

Language:

english

File:

PDF, 288 KB

english, 2010

30

Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency

Valdes-Flores, Margarita, Jimenez Vaca, Ana L., Rivera-Vega, Maria R., Kofman-Alfaro, Susana H., Cuevas-Covarrubias, Sergio A.

Journal:

The Journal of Investigative Dermatology

Year:

2001

Language:

english

File:

PDF, 141 KB

english, 2001

31

Acrodysostosis in two generations: an autosomal dominant syndrome

Rosa María Hernández, Antonio Miranda, Susana Kofman-Alfaro

Journal:

Clinical Genetics

Year:

1991

Language:

english

File:

PDF, 551 KB

english, 1991

32

Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants

Peña-Alonso, Rocío, Nieto, Karem, Alvarez, Rebeca, Palma, Icela, Nájera, Nayelli, Eraña, Luis, Dorantes, Luis M, Kofman-Alfaro, Susana, Queipo, Gloria

Journal:

Modern Pathology

Year:

2004

Language:

english

File:

PDF, 249 KB

english, 2004

33

A Novel Partial Deletion of Exons 2–10 of the STS Gene in Recessive X-Linked Ichthyosis

Valdes-Flores, Margarita, Kofman-Alfaro, Susana H, Vaca, Ana L Jimenez, Cuevas-Covarrubias, Sergio A

Journal:

The Journal of Investigative Dermatology

Year:

2000

Language:

english

File:

PDF, 137 KB

english, 2000

34

Phenotypic Heterogeneity Associated with Identical Mutations in Residue 870 of the Androgen Receptor

Zenteno, Juan Carlos, Ch&aacute, vez, Bertha, Vilchis, Felipe, Kofman-Alfaro, Susana

Journal:

Hormone Research

Year:

2002

Language:

english

File:

PDF, 75 KB

english, 2002

35

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, Sebastian Carranza-Lira, Susana Kofman-Alfaro

Journal:

Archives of Gynecology and Obstetrics

Year:

2004

Language:

english

File:

PDF, 131 KB

english, 2004

36

A Recurrent Missense Mutation in the KAL Gene in Patients with X-Linked Kallmann’s Syndrome 1

Maya-Nuñez, Guadalupe, Zenteno, Juan Carlos, Ulloa-Aguirre, Alfredo, Kofman-Alfaro, Susana, Mendez, Juan Pablo

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1998

Language:

english

File:

PDF, 387 KB

english, 1998

37

Ascertainment and mutational studies ofSRY in nine XY females

Graves, Penelope E., Davis, Diana, Erickson, Robert P., Lopez, Marisol, Kofman-Alfaro, Susana, Mendez, Juan P., Speer, Isabell E.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 36 KB

english, 1999

38

Evidence for Genetic Heterogeneity in Male Pseudohermaphroditism due to Leydig Cell Hypoplasia 1

Zenteno, Juan Carlos, Canto, Patricia, Kofman-Alfaro, Susana, Mendez, Juan Pablo

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1999

Language:

english

File:

PDF, 124 KB

english, 1999

39

Mixed Gonadal Dysgenesis

Méndez, Juan Pablo, Ulloa-Aguirre, Alfredo, Kofman-Alfaro, Susana, Mutchinick, Osvaldo, Fernández-del-Castillo, Carlos, Reyes, Edgardo, Pérez-Palacios, Gregorio

Journal:

Obstetric and Gynecologic Survey

Year:

1993

File:

PDF, 191 KB

1993

40

Partially deleted SRY gene confined to testicular tissue in a 46,XX true hermaphrodite without SRY in leukocytic DNA

Ana Luisa Jiménez, Susana Kofman-Alfaro, Jaime Berumen, Eloy Hernández, Patricia Canto, Juan Pablo Méndez, Juan Carlos Zenteno

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 142 KB

english, 2000

41

Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene

Guadalupe Maya-Núñez, Sergio Cuevas-Covarrubias, Juan Carlos Zenteno, Alfredo Ulloa-Aguirre, Susana Kofman-Alfaro, Juan Pablo Méndez

Journal:

Clinical Endocrinology

Year:

1998

Language:

english

File:

PDF, 156 KB

english, 1998

42

Genetic Services in Mexico City

Kofman-Alfaro, Susana, Zenteno, Juan Carlos

Journal:

Community Genetics

Year:

2004

Language:

english

File:

PDF, 67 KB

english, 2004

43

Gynecomastia as a Familial Incomplete Male Pseudohermaphroditism Type 1: A Limited Androgen Resistance Syndrome*

LARREA, FERNANDO, BENAVIDES, GEORGINA, SCAGLIA, HUGO, KOFMAN-ALFARO, SUSANA, FERRUSCA, ENRIQUE, MEDINA, MARTHA, PEREZ-PALACIOS, GREGORIO

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1978

Language:

english

File:

PDF, 1.13 MB

english, 1978

44

Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63

Juan Carlos Zenteno, Valeria Berdón-Zapata, Susana Kofman-Alfaro, Osvaldo M. Mutchinick

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 75 KB

english, 2005

45

Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue

Juan Carlos Zenteno, Ana Luisa Jiménez, Patricia Canto, Hortensia Valdéz, Juan Pablo Méndez, Susana Kofman-Alfaro

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 78 KB

english, 2001

46

Accuracy of the Clinical Diagnosis of Recessive X-Linked Ichthyosis vs Ichthyosis Vulgaris

Cuevas-Covarrubias, Sergio A., Kofman-Alfaro, Susana H., Palencia, Angélica Beirana, Díaz-Zagoya, Juan C.

Journal:

The Journal of Dermatology

Year:

1996

Language:

english

File:

PDF, 313 KB

english, 1996

47

46,XX Sex Reversal

Juan Carlos Zenteno-Ruiz, Susana Kofman-Alfaro, Juan Pablo Méndez

Journal:

Archives of Medical Research

Year:

2001

Language:

english

File:

PDF, 205 KB

english, 2001

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