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Mutations in rpoB and katG genes in Mycobacterium isolates from the Southeast of Mexico

Memórias do Instituto Oswaldo Cruz, 2009-05, Vol.104 (3), p.468-472

2009

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Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration

Clinical genetics, 2015-03, Vol.87 (3), p.259-265

2015

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Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene

Clinical genetics, 2005-12, Vol.68 (6), p.564-566

2005

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Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy

Molecular vision, 2006-04, Vol.12, p.331-335

2006

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PAX6 gene intragenic deletions in Mexican patients with congenital aniridia

Molecular vision, 2006-04, Vol.12, p.318-323

2006

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CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract

Molecular vision, 2005-06, Vol.11, p.438-442

2005

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

Human genetics, 2002-09, Vol.111 (3), p.278-283

2002

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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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Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia

The journal of clinical endocrinology and metabolism, 1999-10, Vol.84 (10), p.3803-3806

1999

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A rare case of gonadal agenesis with paramesonephric derivatives in a patient with a normal female karyotype

Fertility and sterility, 2005, Vol.83 (1), p.201-204

2005

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Nested polymerase chain reaction—not ready for gold standard status yet

Fertility and sterility, 2004-11, Vol.82 (5), p.1471-1471

2004

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A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome

The journal of clinical endocrinology and metabolism, 1998-05, Vol.83 (5), p.1650-1653

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

American journal of medical genetics. Part A, 2005-07, Vol.136A (2), p.190-193

2005

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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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Clinical and cytogenetic findings in 14 patients with madelung anomaly

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

2005

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

American journal of medical genetics. Part A, 2005-04, Vol.134A (1), p.74-76

2005

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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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Genetic Services in Mexico City

Community genetics, 2004-01, Vol.7 (2/3), p.142-145

2004

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A de novo phe67leu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis

Journal of endocrinological investigation, 2003-11, Vol.26 (11), p.1117-1119

2003

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Congenital absence of the breasts: A case report

American journal of obstetrics and gynecology, 2004-07, Vol.191 (1), p.372-374

2004

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Renal abnormalities in patients with Kallmann syndrome

BJU international, 1999-03, Vol.83 (4), p.383-386

1999

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Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome

American journal of medical genetics. Part A, 2005-05, Vol.135A (1), p.21-27

2005

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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

Clinical endocrinology (Oxford), 1998-06, Vol.48 (6), p.713-718

1998

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Phenotypic heterogeneity associated with identical mutations in residue 870 of the androgen receptor

Hormone research, 2002-01, Vol.57 (3-4), p.90-93

2002

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Mutations in rpoB and katG genes in Mycobacterium isolates from the Southeast of Mexico

Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration

Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene

Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy

PAX6 gene intragenic deletions in Mexican patients with congenital aniridia

CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract

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

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

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

Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia

A rare case of gonadal agenesis with paramesonephric derivatives in a patient with a normal female karyotype

Nested polymerase chain reaction—not ready for gold standard status yet

A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome

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

Two SRY-negative XX male brothers without genital ambiguity

Clinical and cytogenetic findings in 14 patients with madelung anomaly

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

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

Genetic Services in Mexico City

A de novo phe67leu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis

Congenital absence of the breasts: A case report

Renal abnormalities in patients with Kallmann syndrome

Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome

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

Phenotypic heterogeneity associated with identical mutations in residue 870 of the androgen receptor

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