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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

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

4

X-linked ichthyosis in Mexico: High frequency of deletions in the steroid sulfatase encoding gene

Cuevas-Covarrubias, S. A., Kofman-Alfaro, S. H., Maya-Núñez, G., Díaz-Zagoya, Juan C., Orozco, E. Orozco

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 62 KB

english, 1997

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis

M. Valdes-Flores, S.H. Kofman-Alfaro, A.L. Jimenez-Vaca, S.A. Cuevas-Covarrubias

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 110 KB

english, 2001

13

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

14

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

15

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

16

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

17

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, C.A. Venegas-Vega, N. Monroy, G. Contreras-Bucio, U. Friedrich, M. Houman, A. Saad, P. Fernández, S. Kofman-Alfaro, A. Cervantes

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 173 KB

english, 2005

18

Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinity

C.A. Venegas-Vega, M.R. Rivera-Vega, S. Cuevas-Covarrubias, J. Orozco, S. Kofman-Alfaro

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 117 KB

english, 2009

19

Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb–brachyectrodactyly syndrome

A Pérez-Cabrera, S Kofman-Alfaro, J.C Zenteno

Journal:

Journal of Orthopaedic Research

Year:

2002

Language:

english

File:

PDF, 366 KB

english, 2002

20

p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly

V Berdón-Zapata, M Granillo-Álvarez, M Valdés-Flores, J.E Garcı́a-Ortiz, S Kofman-Alfaro, J.C Zenteno

Journal:

Journal of Orthopaedic Research

Year:

2004

Language:

english

File:

PDF, 495 KB

english, 2004

21

Distal arthrogryposis type IIB: probable autosomal recessive inheritance

MR Rivera, CA Avila, S Kofman-Alfaro

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 158 KB

english, 1999

22

Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity

B Chávez, F Vilchis, Jc Zenteno, F Larrea, S Kofman-Alfaro

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 64 KB

english, 2001

23

PCR–PRINS–FISH analysis of structurally abnormal sex chromosomes in eight patients with Turner phenotype

A Cervantes, R Guevara-Yáñez, M López, N Monroy, M Aguinaga, H Valdez, C Sierra, S Canún, J Guízar, C Navarrete, G Zafra, F Salamanca, S Kofman-Alfaro

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 8.28 MB

english, 2001

24

New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia

L Machuca-Tzili, N Monroy-Jaramillo, A González-del Angel, S Kofman-Alfaro

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 66 KB

english, 2002

25

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

26

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

27

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

28

Renal abnormalities in patients with Kallmann syndrome

Zenteno, Méndez, Maya-Núñez, Ulloa-Aguirre, Kofman-Alfaro

Journal:

BJU International

Year:

1999

Language:

english

File:

PDF, 82 KB

english, 1999

29

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

30

Deletion of Exons 1-5 of the STS Gene Causing X-Linked Ichthyosis

Valdes-Flores, M., Kofman-Alfaro, S. H., Vaca, A. L. Jimenez, Cuevas-Covarrubias, S. A.

Journal:

The Journal of Investigative Dermatology

Year:

2001

Language:

english

File:

PDF, 73 KB

english, 2001

31

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

32

Evidence that AEC Syndrome and Bowen–Armstrong Syndrome Are Variable Expressions of the Same Disease

Zenteno, Venegas, Kofman-Alfaro

Journal:

Pediatric Dermatology

Year:

1999

Language:

english

File:

PDF, 2.25 MB

english, 1999

33

Unusual Clinical Presentation in Two Cases of Multiple Sulfatase Deficiency

M. E. Blanco-Aguirre, S. H. Kofman-Alfaro, M. R. Rivera-Vega, C. Medina, M. Valdes-Flores, W. B. Rizzo, S. A. Cuevas-Covarrubias

Journal:

Pediatric Dermatology

Year:

2001

Language:

english

File:

PDF, 240 KB

english, 2001

34

A novel association in a family with oculo-auriculo-vertebral spectrum and x-linked ichthyosis

M. R. Rivera-Vega, Ernesto Dueñas, A. L. Jimenez-Vaca, M. Valdes-Flores, L. M. Gonzalez-Huerta, S. H. Kofman-Alfaro, S. A. Cuevas-Covarrubias

Journal:

Pediatric Dermatology

Year:

2003

Language:

english

File:

PDF, 266 KB

english, 2003

35

Meiosis in the male mouse. An autoradiographic investigation

S. Kofman-Alfaro, Ann C. Chandley

Journal:

Year:

1970

Language:

english

File:

PDF, 2.56 MB

english, 1970

36

Condensation behaviour of the human X chromosome in male germ cells and Sertoli cells examined by fluorescencein situhybridization

S. Kofman-Alfaro, R. M. Speed, S. Boyle, A. C. Chandley

Journal:

Chromosome Research

Year:

1994

Language:

english

File:

PDF, 3.83 MB

english, 1994

37

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

38

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

39

TwoSRY-negative XX male brothers without genital ambiguity

Juan Carlos Zenteno, Marisol López, Clementina Vera, Juan Pablo Méndez, S. Kofman-Alfaro

Journal:

Year:

1997

Language:

english

File:

PDF, 112 KB

english, 1997

40

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

41

A de novo heterozygous point mutation in the p63 gene causing the syndrome of ectrodactyly, ectodermal dysplasia and facial clefting

G. Pozo, S. Canún, S. Kofman-Alfaro, J.C. Zenteno

Journal:

British Journal of Dermatology

Year:

2004

Language:

english

File:

PDF, 79 KB

english, 2004

42

Autosomal dominant inheritance of adducted thumbs and other digital anomalies

A. Miranda, J. C. Zenteno, E. Santiago, S. Kofman-Alfaro

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 722 KB

english, 1998

43

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

44

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

45

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

46

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

47

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

48

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

49

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

50

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

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