Search Results - "Kofman-Alfaro, Susana" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

A great diversity of Amerindian mitochondrial DNA ancestry is present in the Mexican mestizo population

A great diversity of Amerindian mitochondrial DNA ancestry is present in the Mexican mestizo population

by Guardado-Estrada, Mariano, Juarez-Torres, Eligia, Medina-Martinez, Ingrid, Wegier, Ana, Macías, Antonio, Gomez, Guillermo, Cruz-Talonia, Fernando, Roman-Bassaure, Edgar, Piñero, Daniel, Kofman-Alfaro, Susana, Berumen, Jaime
Published in Journal of human genetics (01.12.2009)

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Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene

Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene

by Vilchis, Felipe, Ramos, Luis, Kofman-Alfaro, Susana, Zenteno, Juan Carlos, Méndez, Juan Pablo, Chávez, Bertha
Published in Journal of human genetics (01.07.2003)

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

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

by Peña-Alonso, Rocío, Nieto, Karem, Alvarez, Rebeca, Palma, Icela, Nájera, Nayelli, Eraña, Luis, Dorantes, Luis M, Kofman-Alfaro, Susana, Queipo, Gloria
Published in Modern pathology (01.03.2005)

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Clinical traits and molecular findings in 46,XX males

Clinical traits and molecular findings in 46,XX males

by López, M, Torres, L, Méndez, J P, Cervantes, A, Pérez-Palacios, G, Erickson, R P, Alfaro, G, Kofman-Alfaro, S
Published in Clinical genetics (01.07.1995)

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P450C17 (CYP17) deficiency in native Mexican patient with a novel CYP17A1 mutation

P450C17 (CYP17) deficiency in native Mexican patient with a novel CYP17A1 mutation

by Pérez, Edgar G Durán, del Rincón, Lourdes González, Loza, Oscar T Moreno, de Saro, Monica D Martín, Palomo, Antonio Segovia, Pedraza, Valentín Sánchez, Alfaro, Susana Kofman, García, Gloria E Queipo
Published in Endocrine practice (01.01.2011)

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Are atopy and palm-sole hyperlinearity clinical tools in the differential diagnosis between ichthyosis vulgaris and X-linked ichthyosis?

Are atopy and palm-sole hyperlinearity clinical tools in the differential diagnosis between ichthyosis vulgaris and X-linked ichthyosis?

by Cuevas-Covarrubias, S A, Valdés-Flores, M, Orozco Orozco, E, Díaz-Zagoya, J C, Kofman-Alfaro, S H
Published in Journal of dermatology (01.08.1998)

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

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

by Hidalgo‐Bravo, Alberto, Pompa‐Mera, Ericka N., Kofman‐Alfaro, Susana, Gonzalez‐Bonilla, Cesar R., Zenteno, Juan Carlos
Published in American journal of medical genetics. Part A (15.07.2005)

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

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

by Zenteno, Juan Carlos, Berdón‐Zapata, Valeria, Kofman‐Alfaro, Susana, Mutchinick, Osvaldo M.
Published in American journal of medical genetics. Part A (01.04.2005)

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

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

by QUEIPO, Gloria, ZENTENO, Juan C, RAMON, Guillermo, KOFMAN-ALFARO, Susana, PENA, Rocio, NIETO, Karen, RADILLO, Alejandro, DORANTES, Luis M, ERANA, Luis, LIEBERMAN, Esther, SÖDERLUND, Daniela, JIMENEZ, Ana L
Published in Human genetics (01.09.2002)

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Accuracy of the clinical diagnosis of recessive X-linked ichthyosis vs ichthyosis vulgaris

Accuracy of the clinical diagnosis of recessive X-linked ichthyosis vs ichthyosis vulgaris

by Cuevas-Covarrubias, S A, Kofman-Alfaro, S H, Palencia, A B, Díaz-Zagoya, J C
Published in Journal of dermatology (01.09.1996)

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

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

by Queipo, Gloria, Nieto, Karem, Grether, Patricia, Frías, Sara, Álvarez, Rebeca, Palma, Icela, Eraña, Luis, Peña, Yolanda R., Kofman‐Alfaro, Susana
Published in American journal of medical genetics. Part A (01.08.2005)

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

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

by Nieto, Karem, Peña, Rocío, Palma, Icela, Dorantes, Luis M., Eraña, Luis, Alvarez, Rebeca, García‐Cavazos, Ricardo, Kofman‐Alfaro, Susana, Queipo, Gloria
Published in American journal of medical genetics. Part A (15.10.2004)

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

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

by Cuevas-Covarrubias, Sergio Alberto, Jiménez-Vaca, Ana Luisa, González-Huerta, Luz María, del Refugio Rivera-Vega, Maria, Kofman-Alfaro, Susana H., Valdes-Flores, Margarita, Maya-Nunez, Guadalupe
Published in Journal of investigative dermatology (01.10.2002)

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

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

by Kofman-Alfaro, Susana H., Vaca, Ana L. Jimenez, Cuevas-Covarrubias, Sergio A., Valdes-Flores, Margarita
Published in Journal of investigative dermatology (01.03.2000)

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

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

by Maya-Núñez, Guadalupe, Cuevas-Covarrubias, Sergio, Carlos Zenteno, Juan, Ulloa-Aguirre, Alfredo, Kofman-Alfaro, Susana, Pablo Méndez, Juan
Published in Clinical endocrinology (Oxford) (01.06.1998)

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

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

by Valdes-Flores, Margarita, Jimenez Vaca, Ana L., Rivera-Vega, Maria R., Kofman-Alfaro, Susana H., Cuevas-Covarrubias, Sergio A.
Published in Journal of investigative dermatology (01.10.2001)

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

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

by Maya-Nuñez, Guadalupe, Torres, Leda, Ulloa-Aguirre, Alfredo, Carlos Zenteno, Juan, Cuevas-Covarrubias, Sergio, Saavedra-Ontiveros, Dolores, Kofman-Alfaro, Susana, Pablo Méndez, Juan
Published in Clinical endocrinology (Oxford) (01.02.1999)

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

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

by Miranda-Duarte, A, Valdés-Flores, M, Miranda-Zamora, R, Díaz-Zagoya, J C, Kofman-Alfaro, S H, Cuevas-Covarrubias, S A
Published in Biochemistry and molecular biology international (01.01.1999)

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

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

by Rivera-Vega, M R, Leyva Juárez, N, Cuevas-Covarrubias, S A, Kofman-Alfaro, S H
Published in Clinical genetics (01.10.1996)

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SRY alone can induce normal male sexual differentiation

SRY alone can induce normal male sexual differentiation

by López, M, Torres, L, Méndez, J P, Cervantes, A, Alfaro, G, Pérez-Palacios, G, Erickson, R P, Kofman-Alfaro, S
Published in American journal of medical genetics (30.01.1995)

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