S. H. Kofman-Alfaro: search on Z-Library

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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

Studies on gonadal dysgenesis: variable expressivity of the XY testicular dysgenesis syndrome; two case reports

Kofman-Alfaro, S., Ulloa-Aguirre, A., Méndez, J.P., Angeles, A., Schiavon, R., Pérez-Palacios, G.

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

1989

Language:

english

File:

PDF, 714 KB

english, 1989

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

Phenotypical Expression in XX Males Correlates with Testicular Response to Exogenous Choriogonadotropin in Early Infancy: Does a Variable Degree of Testicular Failure Determine the Degree of Genital Ambiguity?

Méndez, J. P., Ulloa-aguirre, A., Kofman-alfaro, S., Canto, P., Reyes, E., Díaz-cueto, L., Pérez-palacios, G.

Journal:

Systems Biology in Reproductive Medicine

Year:

1996

Language:

english

File:

PDF, 464 KB

english, 1996

14

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

15

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

16

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

17

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

18

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

19

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

20

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

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

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

23

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

24

Inherited male pseudohermaphroditism due to gonadotrophin unresponsiveness

Perez-Palacios, G., Scaglia, H. E., Kofman-Alfaro, S., Saavedra O., D., Ochoa, S., Larraza, O., Perez, A. E.

Journal:

European Journal of Endocrinology

Year:

1981

Language:

english

File:

PDF, 5.08 MB

english, 1981

25

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

26

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

27

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

28

Characterization of a Novel Point Mutation (Arg432His) in X-Linked Ichthyosis

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

Journal:

Acta Dermato Venereologica

Year:

2001

Language:

english

File:

PDF, 222 KB

english, 2001

29

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

30

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

31

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

32

Mix Gonadal Dysgenesis Associated with Ring Y Chromosome Mosaics in a Phenotypic Male

Lopez-Valdes, J.A., Nieto, K., Najera, N., Cervantes, A., Kofman-Alfaro, S., Queipo, G.

Journal:

Sexual Development

Year:

2009

Language:

english

File:

PDF, 243 KB

english, 2009

33

Oral-facial-digital (OFD) syndrome with associated features

Mor??n-Barroso, V., Flores, M. Vald??s, Garc??a-Cavazos, R., Kofman-Alfaro, S., Saavedra-Ontiveros, D.

Journal:

Clinical Dysmorphology

Year:

1998

File:

PDF, 1.65 MB

1998

34

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

35

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

36

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

37

46,XX gonadal absence: a variant of the XX pure gonadal dysgenesis?

Medina, M., Kofman-Alfaro, S., Perez-Palacios, G.

Journal:

European Journal of Endocrinology

Year:

1982

Language:

english

File:

PDF, 264 KB

english, 1982

38

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

39

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

40

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

41

“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

42

Endocrine and immunogenetic evaluation of an XX male infant with perineoscrotal hypospadias

Kofman-Alfaro, S., Valdes, E., Tera, J., Wachtel, S. S., Chavez, B., Bassol, S., Medina, M., Perez-Palacios, G.

Journal:

European Journal of Endocrinology

Year:

1985

Language:

english

File:

PDF, 542 KB

english, 1985

43

Intracranial germ cell tumors: association with Klinefelter syndrome and sex chromosome aneuploidies

Queipo, G., Aguirre, D., Nieto, K., Pe&ntilde, a, Y.R., Palma, I., Olvera, J., Chavez, L., N&aacute, jera, N., Kofman-Alfaro, S.

Journal:

Cytogenetic and Genome Research

Year:

2008

Language:

english

File:

PDF, 138 KB

english, 2008

44

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

45

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

46

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

47

Molecular Analysis of the CYP1B1 Gene: Identification of Novel Truncating Mutations in Patients with Primary Congenital Glaucoma

Messina-Baas, O.M., Gonz&aacute, lez-Huerta, L.M., Chima-Gal&aacute, n, C., Kofman-Alfaro, S.H., Rivera-Vega, M.R., Babay&aacute, n-Mena, I., Cuevas-Covarrubias, S.A.

Journal:

Ophthalmic Research

Year:

2007

Language:

english

File:

PDF, 398 KB

english, 2007

48

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

49

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

50

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

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