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Positional cloning of the APECED gene

Nature genetics, 1997-12, Vol.17 (4), p.393-398

1997

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High rate of biological loss in assisted reproduction: it is in the seed, not in the soil

Reproductive biomedicine online, 2007, Vol.14 (1), p.92-95

2007

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Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

Nature (London), 1997-04, Vol.386 (6627), p.847-851

1997

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A new method for generating point mutations in bacterial artificial chromosomes by homologous recombination in Escherichia coli

Nucleic acids research, 2001-02, Vol.29 (3), p.E14-14

2001

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Altered Spacing of Promoter Elements Due to the Dodecamer Repeat Expansion Contributes to Reduced Expression of the Cystatin B Gene in EPM1

Human molecular genetics, 1999-09, Vol.8 (9), p.1791-1798

1999

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Identification and Characterization of Two Putative Human Arginine Methyltransferases (HRMT1L1 and HRMT1L2)

Genomics (San Diego, Calif.), 1998-03, Vol.48 (3), p.330-340

1998

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Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3

American journal of human genetics, 1996-07, Vol.59 (1), p.66-75

1996

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Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)

American journal of human genetics, 1997-02, Vol.60 (2), p.342-351

1997

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The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion

Cytogenetic and Genome Research, 2003-01, Vol.100 (1-4), p.213-223

2003

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A PCR Amplification Method Reveals Instability of the Dodecamer Repeat in Progressive Myoclonus Epilepsy (EPM1) and No Correlation between the Size of the Repeat and Age at Onset

American journal of human genetics, 1998-04, Vol.62 (4), p.842-847

1998

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Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3 : alternative splicing of mRNA transcripts, genomic structure and sequence

Human genetics, 1998-10, Vol.103 (4), p.386-392

1998

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What is expanded in progressive myoclonus epilepsy?

Nature genetics, 1997-09, Vol.17 (1), p.17-17

1997

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Interchromosomal associations between alternatively expressed loci

Nature, 2005-06, Vol.435 (7042), p.637-645

2005

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Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins

Molecular endocrinology (Baltimore, Md.), 1998-08, Vol.12 (8), p.1112-1119

1998

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Characterization of a Novel Gene, C21orf2, on Human Chromosome 21q22.3 and Its Exclusion as the APECED Gene by Mutation Analysis

Genomics (San Diego, Calif.), 1998-01, Vol.47 (1), p.64-70

1998

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Human embryonic poly(A)-binding protein (EPAB) alternative splicing is differentially regulated in human oocytes and embryos

Molecular human reproduction, 2014-01, Vol.20 (1), p.59-65

2014

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High rate of biological loss in assisted reproduction: it is in the seed, not in the soil

Reproductive biomedicine online, 2007, Vol.14, p.23-26

2007

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Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3

Human genetics, 1997-05, Vol.99 (5), p.616-623

1997

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Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3

Genomics (San Diego, Calif.), 1996-07, Vol.35 (2), p.321-327

1996

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The human lanosterol synthase gene maps to chromosome 21q22.3

Human genetics, 1996-05, Vol.97 (5), p.620-624

1996

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Isolation and Characterization of a Human Chromosome 21q22.3 Gene (WDR4) and Its Mouse Homologue That Code for a WD-Repeat Protein

Genomics (San Diego, Calif.), 2000-08, Vol.68 (1), p.71-79

2000

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WNK4 regulates the balance between renal NaCl reabsorption and K + secretion

Nature genetics, 2003-12, Vol.35 (4), p.372-376

2003

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The Gene for Human U2 snRNP Auxiliary Factor Small 35-kDa Subunit (U2AF1) Maps to the Progressive Myoclonus Epilepsy (EPM1) Critical Region on Chromosome 21q22.3

Genomics (San Diego, Calif.), 1996-04, Vol.33 (2), p.298-300

1996

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Molecular Pathogenesis of Inherited Hypertension with Hyperkalemia: The Na-Cl Cotransporter Is Inhibited by Wild-Type but Not Mutant WNK4

Proceedings of the National Academy of Sciences - PNAS, 2003-01, Vol.100 (2), p.680-684

2003

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Preimplantation genetic diagnosis

Minerva ginecologica, 2010-06, Vol.62 (3), p.213

Lalioti, M D

2010

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Positional cloning of the APECED gene

High rate of biological loss in assisted reproduction: it is in the seed, not in the soil

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

A new method for generating point mutations in bacterial artificial chromosomes by homologous recombination in Escherichia coli

Altered Spacing of Promoter Elements Due to the Dodecamer Repeat Expansion Contributes to Reduced Expression of the Cystatin B Gene in EPM1

Identification and Characterization of Two Putative Human Arginine Methyltransferases (HRMT1L1 and HRMT1L2)

Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)

The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion

A PCR Amplification Method Reveals Instability of the Dodecamer Repeat in Progressive Myoclonus Epilepsy (EPM1) and No Correlation between the Size of the Repeat and Age at Onset

Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3 : alternative splicing of mRNA transcripts, genomic structure and sequence

What is expanded in progressive myoclonus epilepsy?

Interchromosomal associations between alternatively expressed loci

Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins

Characterization of a Novel Gene, C21orf2, on Human Chromosome 21q22.3 and Its Exclusion as the APECED Gene by Mutation Analysis

Human embryonic poly(A)-binding protein (EPAB) alternative splicing is differentially regulated in human oocytes and embryos

High rate of biological loss in assisted reproduction: it is in the seed, not in the soil

Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3

Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3

The human lanosterol synthase gene maps to chromosome 21q22.3

Isolation and Characterization of a Human Chromosome 21q22.3 Gene (WDR4) and Its Mouse Homologue That Code for a WD-Repeat Protein

WNK4 regulates the balance between renal NaCl reabsorption and K + secretion

The Gene for Human U2 snRNP Auxiliary Factor Small 35-kDa Subunit (U2AF1) Maps to the Progressive Myoclonus Epilepsy (EPM1) Critical Region on Chromosome 21q22.3

Molecular Pathogenesis of Inherited Hypertension with Hyperkalemia: The Na-Cl Cotransporter Is Inhibited by Wild-Type but Not Mutant WNK4

Preimplantation genetic diagnosis

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