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Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinity

American journal of medical genetics. Part A, 2009-11, Vol.149A (11), p.2448-2451

2009

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Novel Sonic Hedgehog Mutation in a Couple with Variable Expression of Holoprosencephaly

Case reports in genetics, 2011-01, Vol.2011 (2011), p.1-3

2011

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

Journal of orthopaedic research, 2004, Vol.22 (1), p.1-5

2004

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

Journal of investigative dermatology, 2001-03, Vol.116 (3), p.456-458

2001

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

British journal of dermatology (1951), 2004-10, Vol.151 (4), p.930-932

2004

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Trisomy 3q25.1‐qter and monosomy 8p23.1‐pter in a patient: Cytogenetic and molecular analysis with delineation of the phenotype

American journal of medical genetics. Part A, 2005-07, Vol.136A (3), p.259-264

2005

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Unusual Clinical Presentation in Two Cases of Multiple Sulfatase Deficiency

Pediatric dermatology, 2001-09, Vol.18 (5), p.388-392

2001

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Two SRY-negative XX male brothers without genital ambiguity

Human genetics, 1997-10, Vol.100 (5-6), p.606-610

1997

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

Ophthalmic research, 2007-01, Vol.39 (1), p.17-23

2007

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

Journal of orthopaedic research, 2002-09, Vol.20 (5), p.899-901

2002

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

Cytogenetic and genome research, 2008-08, Vol.121 (3-4), p.211-214

2008

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Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population

Molecular medicine (Cambridge, Mass.), 2001-12, Vol.7 (12), p.845-849

2001

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

Clinical genetics, 2001-03, Vol.59 (3), p.185-188

2001

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Characterization of a novel point mutation (Arg432His) in X-linked ichthyosis

Acta dermato-venereologica, 2001, Vol.81 (1), p.54-55

2001

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

Pediatric dermatology, 2003-03, Vol.20 (2), p.182-184

2003

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

Clinical genetics, 2001-11, Vol.60 (5), p.385-392

2001

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

Journal of investigative dermatology, 2001-10, Vol.117 (4), p.997-999

2001

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Distal arthrogryposis type IIB: probable autosomal recessive inheritance

Clinical genetics, 1999-07, Vol.56 (1), p.95-97

1999

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

Sexual development, 2009-01, Vol.3 (4), p.177-182

2009

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Autosomal dominant inheritance of adducted thumbs and other digital anomalies

Clinical genetics, 1998-07, Vol.54 (1), p.83-85

1998

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Higher prevalence of X-linked ichthyosis vs. ichthyosis vulgaris in Mexico

International journal of dermatology, 1999-07, Vol.38 (7), p.555-556

1999

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Clinical and cytogenetic findings in 14 patients with madelung anomaly

Orthopedics (Thorofare, N.J.), 2005-03, Vol.28 (3), p.315-319

2005

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Most "sporadic" cases of X-linked ichthyosis are not de novo mutations

Acta dermato-venereologica, 1999-03, Vol.79 (2), p.143-144

1999

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

Clinical genetics, 2002-05, Vol.61 (5), p.349-353

2002

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Ichthyosis vulgaris and X-linked ichthyosis: simultaneous segregation in the same family

Acta dermato-venereologica, 1999-11, Vol.79 (6), p.494-495

1999

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Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinity

Novel Sonic Hedgehog Mutation in a Couple with Variable Expression of Holoprosencephaly

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

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

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

Trisomy 3q25.1‐qter and monosomy 8p23.1‐pter in a patient: Cytogenetic and molecular analysis with delineation of the phenotype

Unusual Clinical Presentation in Two Cases of Multiple Sulfatase Deficiency

Two SRY-negative XX male brothers without genital ambiguity

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

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

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

Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population

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

Characterization of a novel point mutation (Arg432His) in X-linked ichthyosis

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

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

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

Distal arthrogryposis type IIB: probable autosomal recessive inheritance

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

Autosomal dominant inheritance of adducted thumbs and other digital anomalies

Higher prevalence of X-linked ichthyosis vs. ichthyosis vulgaris in Mexico

Clinical and cytogenetic findings in 14 patients with madelung anomaly

Most "sporadic" cases of X-linked ichthyosis are not de novo mutations

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

Ichthyosis vulgaris and X-linked ichthyosis: simultaneous segregation in the same family

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