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Kabuki syndrome: international consensus diagnostic criteria

Journal of medical genetics, 2019-02, Vol.56 (2), p.89

2019

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Nature genetics, 2012-04, Vol.44 (4), p.376-378

2012

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KDM6A Point Mutations Cause Kabuki Syndrome

Human mutation, 2013-01, Vol.34 (1), p.108-110

2013

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Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome

Proceedings of the National Academy of Sciences - PNAS, 2011-09, Vol.108 (36), p.14914-14919

2011

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Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

Journal of human genetics, 2012-05, Vol.57 (5), p.338-341

2012

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The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations

Journal of human genetics, 2012-12, Vol.57 (12), p.787-795

2012

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Kabuki make-up syndrome: A review

American journal of medical genetics, 2003-02, Vol.117C (1), p.57-65

2003

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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

American journal of medical genetics. Part A, 2011-07, Vol.155A (7), p.1511-1516

2011

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Do monochorionic dizygotic twins increase after pregnancy by assisted reproductive technology?

Journal of human genetics, 2005-01, Vol.50 (1), p.1-6

2005

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Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1221-1237

2013

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ASC, a Novel 22-kDa Protein, Aggregates during Apoptosis of Human Promyelocytic Leukemia HL-60 Cells

The Journal of biological chemistry, 1999-11, Vol.274 (48), p.33835-33838

1999

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Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants

Endocrine Connections, 2022-10, Vol.11 (10), p.1-9

2022

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LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density

Journal of human genetics, 2004-02, Vol.49 (2), p.80-86

2004

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Quantitative Structure−Activity Relationship Analysis and Molecular Dynamics Simulation To Functionally Validate Nonsynonymous Polymorphisms of Human ABC Transporter ABCB1 (P-Glycoprotein/MDR1)

Biochemistry (Easton), 2007-07, Vol.46 (26), p.7678-7693

2007

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Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families

Journal of human genetics, 2007-04, Vol.52 (4), p.334-341

2007

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A eulogy to the late Dr. Shiro Miwa

Journal of human genetics, 2006-06, Vol.51 (6), p.503-504

Niikawa, Norio

2006

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Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats

Human molecular genetics, 2005-02, Vol.14 (4), p.535-542

2005

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A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene

Human biology, 2017-10, Vol.89 (4), p.305-307

2017

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Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome

American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.1891-1896

2012

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A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland

Human genetics, 2007-06, Vol.121 (5), p.631-633

2007

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Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

Nature genetics, 2000-09, Vol.26 (1), p.19-20

2000

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Molecular basis of Sotos syndrome

Hormone research, 2004-01, Vol.62 Suppl 3, p.60-65

Niikawa, Norio

2004

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Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum

Journal of human genetics, 2007-06, Vol.52 (6), p.492-497

2007

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Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

Journal of human genetics, 2009-05, Vol.54 (5), p.304-309

2009

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Kabuki syndrome: international consensus diagnostic criteria

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

KDM6A Point Mutations Cause Kabuki Syndrome

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations

Kabuki make-up syndrome: A review

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

Do monochorionic dizygotic twins increase after pregnancy by assisted reproductive technology?

A SNP in the ABCC11 gene is the determinant of human earwax type

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

ASC, a Novel 22-kDa Protein, Aggregates during Apoptosis of Human Promyelocytic Leukemia HL-60 Cells

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants

LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density

Quantitative Structure−Activity Relationship Analysis and Molecular Dynamics Simulation To Functionally Validate Nonsynonymous Polymorphisms of Human ABC Transporter ABCB1 (P-Glycoprotein/MDR1)

Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families

A eulogy to the late Dr. Shiro Miwa

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats

A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene

Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome

A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

Molecular basis of Sotos syndrome

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

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