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1

Del Xq23 in a Mosaic Turner Female: Molecular and Cytogenetic Studies

Viviana Matilde Mesa-Cornejo, Diana García-Cruz, Nancy Monroy-Jaramillo, Ana Isabel Vásquez, Nory Omayra Dávalos, Carlos Galaviz, Susana Kofman

Journal:

Annales de Génétique

Year:

2001

Language:

english

File:

PDF, 62 KB

english, 2001

2

Suppressing the lower multipoles in the CMB anisotropies

Contaldi, Carlo R, Peloso, Marco, Kofman, Lev, Linde, Andrei

Journal:

Journal of Cosmology and Astroparticle Physics

Year:

2003

Language:

english

File:

PDF, 405 KB

english, 2003

3

Usefulness of Nonvalved Spacers for Administration of Inhaled Steroids in Young Children with Recurrent Wheezing and Risk Factors for Asthma

Kofman, Carlos, Teper, Alejandro

Journal:

Canadian Respiratory Journal

Year:

2018

Language:

english

File:

PDF, 1.48 MB

english, 2018

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

Association study between late onset Alzheimer's disease and genes implicated in the Aβ metabolism in Mexican patients

Carlos Venegas, Nayeli Najera, Francisco Mena, Luis M Gutierrez, Alejandro Fuentes, Malaquias Lopez, Susana Kofman

Journal:

Annals of General Psychiatry

Year:

2008

Language:

english

File:

PDF, 136 KB

english, 2008

13

Effects of inhaled fluticasone propionate in children less than 2 years old with recurrent wheezing

Alejandro M. Teper, Alejandro J. Colom, Carlos D. Kofman, Alberto F. Maffey, Santiago M. Vidaurreta, Ignacio Bergadá

Journal:

Pediatric Pulmonology

Year:

2004

Language:

english

File:

PDF, 96 KB

english, 2004

14

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

15

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

16

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

17

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

18

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

19

Lung function in infants with chronic pulmonary disease after severe adenoviral illness

Alejandro M. Teper, Carlos D. Kofman, Alberto F. Maffey, Santiago M. Vidaurreta

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 146 KB

english, 1999

20

19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role ofUBA2in the associated phenotype

Venegas-Vega, Carlos, Nieto-Martínez, Karem, Martínez-Herrera, Alejandro, Gómez-Laguna, Laura, Berumen, Jaime, Cervantes, Alicia, Kofman, Susana, Fernández-Ramírez, Fernando

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 2.80 MB

english, 2014

21

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

22

Genetic Services in Mexico City

Kofman-Alfaro, Susana, Zenteno, Juan Carlos

Journal:

Community Genetics

Year:

2004

Language:

english

File:

PDF, 67 KB

english, 2004

23

Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

Venegas-Vega, Carlos A., Fernández-Ramírez, Fernando, Zepeda, Luis M., Nieto-Martínez, Karem, Gómez-Laguna, Laura, Garduño-Zarazúa, Luz M., Berumen, Jaime, Kofman, Susana, Cervantes, Alicia

Journal:

BioMed Research International

Year:

2013

Language:

english

File:

PDF, 3.00 MB

english, 2013

24

Gravitational instability of de Sitter compactifications

Contaldi, Carlo, Kofman, Lev, Peloso, Marco

Journal:

Journal of Cosmology and Astroparticle Physics

Year:

2004

Language:

english

File:

PDF, 493 KB

english, 2004

25

Fluticasone Improves Pulmonary Function in Children under 2 Years Old with Risk Factors for Asthma

Teper, Alejandro M., Kofman, Carlos D., Szulman, Gabriela A., Vidaurreta, Santiago M., Maffey, Alberto F.

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2005

Language:

english

File:

PDF, 81 KB

english, 2005

26

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

27

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

28

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

29

The CONSERT operations planning process for the Rosetta mission

Rogez, Yves, Puget, Pascal, Zine, Sonia, Hérique, Alain, Kofman, Wlodek, Altobelli, Nicolas, Ashman, Mike, Barthélémy, Maud, Biele, Jens, Blazquez, Alejandro, Casas, Carlos M., Sitjà, Marc Costa, Delm

Journal:

Acta Astronautica

Year:

2016

Language:

english

File:

PDF, 8.82 MB

english, 2016

30

Treatment with inhaled corticosteroids improves pulmonary function in children under 2 years old with risk factors for asthma

Teper, Alejandro Manuel, Kofman, Carlos Daniel

Journal:

Current Opinion in Allergy and Clinical Immunology

Year:

2006

Language:

english

File:

PDF, 100 KB

english, 2006

31

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

32

[American Institute of Aeronautics and Astronautics 15th International Conference on Space Operations - Marseille, France ()] 15th International Conference on Space Operations - The CONSERT operations planning process for the Rosetta mission

Rogez, Yves, Puget, Pascal, Zine, Sonia, Hérique, Alain, Kofman, Wlodek, Altobelli, Nicolas, Ashman, Mike, Barthélémy, Maud, Biele, Jens, Blazquez, Alessandro, Casas, Carlos M., Sitjà, Marc Costa, Del

Language:

english

File:

PDF, 1.50 MB

english

33

Respuesta broncodilatadora del salbutamol administrado como aerosol presurizado mediante aerocámaras con válvulas o espaciadores no valvulados

KOFMAN, CARLOS, TEPER, ALEJANDRO, VIDAURRETA, SANTIAGO, KÖHLER, MARÍA TERESA

Journal:

Revista chilena de pediatría

Year:

2008

File:

PDF, 97 KB

2008

34

Exhaled nitric oxide predicts loss of asthma control in children after inhaled corticosteroids withdrawal

Chang, Daniel V., Teper, Alejandro, Balinotti, Juan, Castro Simonelli, Christian, Garcia-Bournissen, Facundo, Kofman, Carlos

Journal:

Pediatric Pulmonology

Year:

2019

Language:

english

File:

PDF, 522 KB

english, 2019

35

[American Thoracic Society American Thoracic Society 2011 International Conference, May 13-18, 2011 â¢ Denver Colorado - ()] C106. PEDIATRIC ASTHMA - Association Between Nitric Oxide And A Clinical Index To Define Risk Of Asthma In Young Children With Recurrent Wheezing

Balinotti, Juan E., Colom, Alejandro, Kofman, Carlos, Teper, Alejandro M.

Year:

2011

File:

PDF, 17 KB

2011

36

[American Thoracic Society American Thoracic Society 2012 International Conference, May 18-23, 2012 â¢ San Francisco, California - ()] C108. PEDIATRIC CYSTIC FIBROSIS AND PRIMARY CILIARY DYSKINESIA - Inhaled 7% Hypertonic Saline In Infants With Cystic Fibrosis: Is It Safe And Tolerable?

Balinotti, Juan E., Rodriguez, Viviana, Zaragoza, Silvina, Lubovich, Silvina, Celiz, Mariana, Kofman, Carlos, Teper, Alejandro

Year:

2012

File:

PDF, 18 KB

2012