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Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function

Human reproduction (Oxford), 2017-02, Vol.32 (2), p.465-475

2017

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FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile

Clinical genetics, 2014-10, Vol.86 (4), p.378-382

2014

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Aspectos clínicos, moleculares y farmacológicos en los trastornos asociados a gen 1 del retraso mental del X frágil

Neurología (Barcelona, Spain), 2017-05, Vol.32 (4), p.241-252

2017

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Clinical, molecular, and pharmacological aspects of FMR1 related disorders

Neurologia (Barcelona, Spain), 2017-05, Vol.32 (4), p.241

2017

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Clinical, molecular, and pharmacological aspects of FMR1-related disorders

Neurología (Barcelona, English ed. ), 2017-05, Vol.32 (4), p.241-252

2017

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Clinical and Cytogenetical diagnosis in the Fragil X Syndrome

Pediatric research, 1996-02, Vol.39 (2), p.369-369

1996

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Barber-Say syndrome: further delineation of the clinical spectrum

Genetics and molecular biology, 2000-06, Vol.23 (2), p.265-267

2000

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Cytogenetic and molecular profile of genetic diseases in Puerto Montt main hospital

Revista medíca de Chile, 2011-03, Vol.139 (3), p.298-305

2011

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Genetic screening to determine an etiologic diagnosis in children with mental retardation

Revista medíca de Chile, 2008-12, Vol.136 (12), p.1542-1551

2008

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Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome

Revista medíca de Chile, 2005-01, Vol.133 (1), p.33-41

2005

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Molecular diagnosis of Prader-Willi and Angelman syndromes: methylation, cytogenetics and FISH analysis

Revista medíca de Chile, 2001-04, Vol.129 (4), p.367-374

2001

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Direct molecular analysis of FMR-1 gene mutation in patients with fragile Xq syndrome and their families

Revista medíca de Chile, 1998-12, Vol.126 (12), p.1435-1446

1998

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Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation

American journal of medical genetics, 2002-12, Vol.113 (3), p.307-308

2002

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CD23 + IgG1 + memory B cells are poised to switch to pathogenic IgE production in food allergy

Science translational medicine, 2024-02, Vol.16 (733), p.eadi0673

2024

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Cytogenetic findings in patients with Down's syndrome

Revista Chilena de pediatría, 1990-11, Vol.61 (6), p.313-316

1990

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Neuropilin 1 is expressed on thymus-derived natural regulatory T cells, but not mucosa-generated induced Foxp3+ T reg cells

The Journal of experimental medicine, 2012-09, Vol.209 (10), p.1723-1742

2012

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Clinical and immunochemical profiles of food challenge proven or anaphylactic shrimp allergy in tropical Singapore

Clinical and experimental allergy, 2015-03, Vol.45 (3), p.687-697

2015

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The differential diagnosis of syndromes of bone marrow hypoplasia associated with malformation of the extremities

Revista Chilena de pediatría, 1982-09, Vol.53 (5), p.447-455

1982

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Preliminary evaluation of the treatment with folic acid in 2 patients with sex-linked mental retardation and macroorchidism

Revista medíca de Chile, 1984-05, Vol.112 (5), p.469

1984

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Diesel Exhaust Particle-Exposed Human Bronchial Epithelial Cells Induce Dendritic Cell Maturation

Journal of Immunology, 2006-06, Vol.176 (12), p.7431-7437

2006

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Chromosomal studies in infants with severe protein-calorie malnutrition

Revista Chilena de pediatría, 1982-09, Vol.53 (5), p.416-418

1982

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Diesel Exhaust Particle-Exposed Human Bronchial Epithelial Cells Induce Dendritic Cell Maturation and Polarization via Thymic Stromal Lymphopoietin

Journal of clinical immunology, 2008-03, Vol.28 (2), p.147-156

2008

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Phenotypic screening for X-linked mental retardation: fragile Xq syndrome

Revista Chilena de pediatría, 1982-09, Vol.53 (5), p.419-425

1982

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Expression profiles of regulatory and helper T-cell-associated genes in nasal polyposis

Allergy (Copenhagen), 2012-06, Vol.67 (6), p.732-740

2012

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Discovery of Novel Antifungal (1,3)-β-d-Glucan Synthase Inhibitors

Antimicrobial Agents and Chemotherapy, 2000-02, Vol.44 (2), p.368-377

2000

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Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function

FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile

Aspectos clínicos, moleculares y farmacológicos en los trastornos asociados a gen 1 del retraso mental del X frágil

Clinical, molecular, and pharmacological aspects of FMR1 related disorders

Clinical, molecular, and pharmacological aspects of FMR1-related disorders

Clinical and Cytogenetical diagnosis in the Fragil X Syndrome

Barber-Say syndrome: further delineation of the clinical spectrum

Cytogenetic and molecular profile of genetic diseases in Puerto Montt main hospital

Genetic screening to determine an etiologic diagnosis in children with mental retardation

Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome

Molecular diagnosis of Prader-Willi and Angelman syndromes: methylation, cytogenetics and FISH analysis

Direct molecular analysis of FMR-1 gene mutation in patients with fragile Xq syndrome and their families

Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation

CD23 + IgG1 + memory B cells are poised to switch to pathogenic IgE production in food allergy

Cytogenetic findings in patients with Down's syndrome

Neuropilin 1 is expressed on thymus-derived natural regulatory T cells, but not mucosa-generated induced Foxp3+ T reg cells

Clinical and immunochemical profiles of food challenge proven or anaphylactic shrimp allergy in tropical Singapore

The differential diagnosis of syndromes of bone marrow hypoplasia associated with malformation of the extremities

Preliminary evaluation of the treatment with folic acid in 2 patients with sex-linked mental retardation and macroorchidism

Diesel Exhaust Particle-Exposed Human Bronchial Epithelial Cells Induce Dendritic Cell Maturation

Chromosomal studies in infants with severe protein-calorie malnutrition

Diesel Exhaust Particle-Exposed Human Bronchial Epithelial Cells Induce Dendritic Cell Maturation and Polarization via Thymic Stromal Lymphopoietin

Phenotypic screening for X-linked mental retardation: fragile Xq syndrome

Expression profiles of regulatory and helper T-cell-associated genes in nasal polyposis

Discovery of Novel Antifungal (1,3)-β-d-Glucan Synthase Inhibitors

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