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Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma

American journal of human genetics, 2003-05, Vol.72 (5), p.1141-1153

2003

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Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects

Internal medicine journal, 2009-05, Vol.39 (5), p.335-337

2009

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PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

Journal of medical genetics, 2004-05, Vol.41 (5), p.373-380

2004

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Clinical presentation and pathogenesis of cold‐induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation

Arthritis & rheumatology (Hoboken, N.J.), 2011-03, Vol.63 (3), p.830-839

2011

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Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis

Journal of the American Society of Nephrology, 2001-12, Vol.12 (12), p.2742-2746

2001

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Lysyl oxidase activates the transcription activity of human collagene III promoter. Possible involvement of Ku antigen

The Journal of biological chemistry, 2000-11, Vol.275 (46), p.36341

2000

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Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation

Clinical genetics, 2010-09, Vol.78 (3), p.289-293

2010

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MLPA assay in F8 gene mutation screening

Haemophilia : the official journal of the World Federation of Hemophilia, 2008-05, Vol.14 (3), p.625-627

2008

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Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

Human molecular genetics, 2005-07, Vol.14 (13), p.1815-1824

2005

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Broadening the spectrum of diseases related to podocin mutations

Journal of the American Society of Nephrology, 2003-05, Vol.14 (5), p.1278-1286

2003

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Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin

American journal of kidney diseases, 2003-06, Vol.41 (6), p.1314-1321

2003

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Multiplex ligation-dependent probe amplification to detect a large deletion within the von Willebrand gene

Haemophilia : the official journal of the World Federation of Hemophilia, 2009-11, Vol.15 (6), p.1346-1348

2009

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Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood

Kidney international, 2003-07, Vol.64 (1), p.365-365

2003

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Association of alleles at polymorphic sites in the osteopontin encoding gene in young type 1 diabetic patients

Clinical immunology (Orlando, Fla.), 2009-04, Vol.131 (1), p.84-91

2009

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A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

Genetics in medicine, 2010-07, Vol.12 (7), p.431-439

2010

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An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

Human genetics, 2003-04, Vol.112 (4), p.419-425

2003

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Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin

American journal of kidney diseases, 2004-04, Vol.43 (4), p.727-732

2004

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What's the point of children's sensory peculiarities in PDD assessment?

Neuropsychiatrie de l'enfance et de l'adolescence, 2012-07, Vol.60 (5), p.S202-S202

2012

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An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient

European journal of human genetics : EJHG, 2004-02, Vol.12 (2), p.150-154

2004

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Expression studies of two novel in CIS‐mutations identified in an intermediate case of Hunter syndrome

American journal of medical genetics, 2003-07, Vol.120A (1), p.84-87

2003

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Rare Functional Variants of Podocin (NPHS2) Promoter in Patients With Nephrotic Syndrome

Gene expression, 2006-01, Vol.13 (1), p.59-66

2006

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Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B

Gene, 2002-01, Vol.283 (1-2), p.17-26

2002

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Micro-injection of recombinant lysyl oxidase blocks oncogenic p21-Ha-Ras and progesterone effects on Xenopus laevis oocyte maturation

FEBS letters, 1997-12, Vol.419 (1), p.63-68

1997

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Lysyl oxidase expression and collagen cross-linking during chronic adriamycin nephropathy

Nephron, 1997, Vol.76 (2), p.192-200

1997

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Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome

International journal of molecular medicine, 2003-07, Vol.12 (1), p.79

2003

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Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma

Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

Clinical presentation and pathogenesis of cold‐induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis

Lysyl oxidase activates the transcription activity of human collagene III promoter. Possible involvement of Ku antigen

Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation

MLPA assay in F8 gene mutation screening

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

Broadening the spectrum of diseases related to podocin mutations

Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin

Multiplex ligation-dependent probe amplification to detect a large deletion within the von Willebrand gene

Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood

Association of alleles at polymorphic sites in the osteopontin encoding gene in young type 1 diabetic patients

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin

What's the point of children's sensory peculiarities in PDD assessment?

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient

Expression studies of two novel in CIS‐mutations identified in an intermediate case of Hunter syndrome

Rare Functional Variants of Podocin (NPHS2) Promoter in Patients With Nephrotic Syndrome

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B

Micro-injection of recombinant lysyl oxidase blocks oncogenic p21-Ha-Ras and progesterone effects on Xenopus laevis oocyte maturation

Lysyl oxidase expression and collagen cross-linking during chronic adriamycin nephropathy

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome

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