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Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

Journal of medical genetics, 2010-10, Vol.47 (10), p.704-709

2010

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Mutations in the TRKA /NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

Nature genetics, 1996-08, Vol.13 (4), p.485-488

1996

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Cause of sudden, unexpected death of Prader-Willi syndrome patients with or without growth hormone treatment

American journal of medical genetics. Part A, 2005-07, Vol.136A (1), p.45-48

2005

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Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy

Clinical genetics, 2007-10, Vol.72 (4), p.378-380

2007

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Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan

Journal of medical genetics, 2008-07, Vol.45 (7), p.479-480

2008

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Identification of an autoimmune enteropathy–related 75-kilodalton antigen

Gastroenterology (New York, N.Y. 1943), 1999-10, Vol.117 (4), p.823-830

1999

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Establishment of Chinese hamster ovary cell lines with reduced expression of glutathione reductase after antisense-oriented gene transfection and assessment of the sensitivity to oxidant injury

[Hokkaido igaku zasshi] The Hokkaido journal of medical science, 1994-09, Vol.69 (5), p.1261

Tonoki, H

1994

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A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR

Human genetics, 1999-01, Vol.104 (1), p.49-55

1999

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High frequency of p53 mutations in human oral epithelial dysplasia and primary squamous cell carcinoma detected by yeast functional assay

Oncogene, 1997-11, Vol.15 (22), p.2667-2674

1997

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A functional and quantitative mutational analysis of p53 mutations in yeast indicates strand biases and different roles of mutations in DMBA‐ and BBN‐induced tumors in rats

International journal of cancer, 2000-03, Vol.85 (6), p.898-898

2000

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Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

American journal of medical genetics. Part A, 2005-05, Vol.135A (1), p.103-105

2005

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Regional mapping of the parathyroid hormone gene (PTH) by cytogenetic and molecular studies

Cytogenetic and genome research, 1991-01, Vol.56 (2), p.103-104

1991

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Phenotype-genotype correlation in two patients with 12q proximal deletion

Journal of human genetics, 2004-05, Vol.49 (5), p.282-284

2004

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Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia

Pediatric nephrology (Berlin, West), 2006-04, Vol.21 (4), p.574-576

2006

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No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients

American journal of medical genetics. Part A, 2006-02, Vol.140A (3), p.291-293

2006

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Induction of Apoptosis in Melanoma Cell Lines by p53 and its Related Proteins

Journal of investigative dermatology, 2001-10, Vol.117 (4), p.914-919

2001

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Non‐chromosome 15 marker chromosome in a Prader‐Willi syndrome patient with uniparental disomy

Pediatrics international, 2006-02, Vol.48 (1), p.97-99

2006

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Distinct prognostic values of p53 mutations and loss of estrogen receptor and their cumulative effect in primary breast cancers

International journal of cancer, 2000-01, Vol.89 (1), p.92-99

2000

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Molecular study of the Prader-Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients

American journal of medical genetics, 1991-10, Vol.41 (1), p.54-63

1991

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A symptomatic female patient with Duchenne muscular dystrophy diagnosed by dystrophin-staining : a case report

European journal of pediatrics, 1992, Vol.151 (1), p.66-68

1992

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The Coffin-Lowry Syndrome: Four New Cases In Three Families

Pediatrics international, 1983-09, Vol.25 (3), p.298-303

1983

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Isolation of Differentiated Squamous and Undifferentiated Spindle Carcinoma Cell Lines with Differing Metastatic Potential from a 4‐Nitroquinoline N‐Oxide‐induced Tongue Carcinoma in a F344 Rat

Cancer science, 2000-12, Vol.91 (12), p.1211-1221

2000

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Pigmentary dysplasias in long survivors with mosaic trisomy 18: report of two cases

Clinical genetics, 1991-01, Vol.39 (1), p.68-74

1991

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A boy with thanatophoric dysplasia surviving 212 days

Clinical genetics, 1987-12, Vol.32 (6), p.415-416

Tonoki, Hidefumi

1987

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A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I

Journal of medical genetics, 1997-04, Vol.34 (4), p.335-339

1997

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Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

Mutations in the TRKA /NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

Cause of sudden, unexpected death of Prader-Willi syndrome patients with or without growth hormone treatment

Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy

Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan

Identification of an autoimmune enteropathy–related 75-kilodalton antigen

Establishment of Chinese hamster ovary cell lines with reduced expression of glutathione reductase after antisense-oriented gene transfection and assessment of the sensitivity to oxidant injury

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR

High frequency of p53 mutations in human oral epithelial dysplasia and primary squamous cell carcinoma detected by yeast functional assay

A functional and quantitative mutational analysis of p53 mutations in yeast indicates strand biases and different roles of mutations in DMBA‐ and BBN‐induced tumors in rats

Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

Regional mapping of the parathyroid hormone gene (PTH) by cytogenetic and molecular studies

Phenotype-genotype correlation in two patients with 12q proximal deletion

Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia

No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients

Induction of Apoptosis in Melanoma Cell Lines by p53 and its Related Proteins

Non‐chromosome 15 marker chromosome in a Prader‐Willi syndrome patient with uniparental disomy

Distinct prognostic values of p53 mutations and loss of estrogen receptor and their cumulative effect in primary breast cancers

Molecular study of the Prader-Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients

A symptomatic female patient with Duchenne muscular dystrophy diagnosed by dystrophin-staining : a case report

The Coffin-Lowry Syndrome: Four New Cases In Three Families

Isolation of Differentiated Squamous and Undifferentiated Spindle Carcinoma Cell Lines with Differing Metastatic Potential from a 4‐Nitroquinoline N‐Oxide‐induced Tongue Carcinoma in a F344 Rat

Pigmentary dysplasias in long survivors with mosaic trisomy 18: report of two cases

A boy with thanatophoric dysplasia surviving 212 days

A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I

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