Novel Sonic Hedgehog Mutation in a Couple with Variable Expression of Holoprosencephaly
Aguinaga, M., Llano, I., Zenteno, J. C., Kofman Alfaro, S.
Published in Case reports in genetics (01.01.2011)
Published in Case reports in genetics (01.01.2011)
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Journal Article
Deletion of Exons 1–5 of the STS Gene Causing X-Linked Ichthyosis
Valdes-Flores, M., Kofman-Alfaro, S.H., Jimenez Vaca, A.L., Cuevas-Covarrubias, S.A.
Published in Journal of investigative dermatology (01.03.2001)
Published in Journal of investigative dermatology (01.03.2001)
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Journal Article
Trisomy 3q25.1‐qter and monosomy 8p23.1‐pter in a patient: Cytogenetic and molecular analysis with delineation of the phenotype
Zafra de la Rosa, G., Venegas‐Vega, C.A., Monroy, N., Contreras‐Bucio, G., Friedrich, U., Houman, M., Saad, A., Fernández, P., Kofman‐Alfaro, S., Cervantes, A.
Published in American journal of medical genetics. Part A (30.07.2005)
Published in American journal of medical genetics. Part A (30.07.2005)
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Journal Article
Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb–brachyectrodactyly syndrome
Pérez-Cabrera, A, Kofman-Alfaro, S, Zenteno, J.C
Published in Journal of orthopaedic research (01.09.2002)
Published in Journal of orthopaedic research (01.09.2002)
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Journal Article
Two SRY-negative XX male brothers without genital ambiguity
ZENTENO, J. C, LOPEZ, M, VERA, C, MENDEZ, J. P, KOFMAN-ALFARO, S
Published in Human genetics (01.10.1997)
Published in Human genetics (01.10.1997)
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Journal Article
Molecular Analysis of the CYP1B1 Gene: Identification of Novel Truncating Mutations in Patients with Primary Congenital Glaucoma
Messina-Baas, O.M., González-Huerta, L.M., Chima-Galán, C., Kofman-Alfaro, S.H., Rivera-Vega, M.R., Babayán-Mena, I., Cuevas-Covarrubias, S.A.
Published in Ophthalmic research (01.01.2007)
Published in Ophthalmic research (01.01.2007)
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Journal Article
Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity
Chávez, B, Vilchis, F, Zenteno, Jc, Larrea, F, Kofman-Alfaro, S
Published in Clinical genetics (01.03.2001)
Published in Clinical genetics (01.03.2001)
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Journal Article
Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population
Jimenez Vaca, A L, Valdes-Flores, M del R, Rivera-Vega, M R, González-Huerta, L M, Kofman-Alfaro, S H, Cuevas-Covarrubias, S A
Published in Molecular medicine (Cambridge, Mass.) (01.12.2001)
Published in Molecular medicine (Cambridge, Mass.) (01.12.2001)
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Journal Article
A novel association in a family with oculo-auriculo-vertebral spectrum and x-linked ichthyosis
Rivera-Vega, M. R., Dueñas, Ernesto, Jimenez-Vaca, A. L., Valdes-Flores, M., Gonzalez-Huerta, L. M., Kofman-Alfaro, S. H., Cuevas-Covarrubias, S. A.
Published in Pediatric dermatology (01.03.2003)
Published in Pediatric dermatology (01.03.2003)
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Journal Article
PCR-PRINS-FISH analysis of structurally abnormal sex chromosomes in eight patients with Turner phenotype
Cervantes, A, Guevara-Yáñez, R, López, M, Monroy, N, Aguinaga, M, Valdez, H, Sierra, C, Canún, S, Guízar, J, Navarrete, C, Zafra, G, Salamanca, F, Kofman-Alfaro, S
Published in Clinical genetics (01.11.2001)
Published in Clinical genetics (01.11.2001)
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Journal Article
Intracranial germ cell tumors: association with Klinefelter syndrome and sex chromosome aneuploidies
Queipo, G., Aguirre, D., Nieto, K., Peña, Y.R., Palma, I., Olvera, J., Chavez, L., Nájera, N., Kofman-Alfaro, S.
Published in Cytogenetic and genome research (01.08.2008)
Published in Cytogenetic and genome research (01.08.2008)
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Journal Article
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.
Published in Journal of investigative dermatology (01.10.2001)
Published in Journal of investigative dermatology (01.10.2001)
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Journal Article
Autosomal dominant inheritance of adducted thumbs and other digital anomalies
Miranda, A., Zenteno, J. C., Santiago, E., Kofman-Alfaro, S.
Published in Clinical genetics (01.07.1998)
Published in Clinical genetics (01.07.1998)
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