Lista de obras -

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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

A ZRS duplication causes syndactyly type IV with tibial hypoplasia

artículo científico publicado en 2009

A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1

artículo científico publicado en 2010

A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway

artículo científico publicado en 2002

A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2.

artículo científico publicado en 2006

A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical region

A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate

artículo científico publicado en 2006

A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet

artículo científico publicado en 2002

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

A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene

artículo científico publicado en 2009

A syndactyly type IV locus maps to 7q36.

artículo científico publicado en 2007

Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting

artículo científico publicado en 2003

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q

artículo científico publicado en 2007

Cell-free DNA is more sensitive than cell-free mRNA as a marker for evaluation of fetal-maternal hemorrhage

artículo científico publicado en 2006

Circulating cell-free placental mRNA in the maternal plasma as a predictive marker for twin-twin transfusion syndrome

scientific article published on 01 June 2007

Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders

artículo científico publicado en 2011

Clinical applications of plasma circulating mRNA analysis in cases of gestational trophoblastic disease

artículo científico publicado en 2005

Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause

artículo científico publicado en 2006

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family

artículo científico publicado en 2002

Congenital arhinia: molecular-genetic analysis of five patients

artículo científico publicado en 2007

Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?

artículo científico publicado en 2009

Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies

artículo científico publicado en 2005

Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain

artículo científico publicado en 2006

Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array

artículo científico publicado en 2010

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

artículo científico publicado en 2003

Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family

artículo científico publicado en 2007

Heterozygous TGFBR2 mutations in Marfan syndrome

artículo científico publicado en 2004

Increased level of cell-free placental mRNA in a subgroup of placenta previa that needs hysterectomy

artículo científico publicado en 2008

Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: a new clinical entity?

artículo científico publicado en 2004

Labor increases maternal DNA contamination in cord blood

artículo científico publicado en 2004

Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia

scientific article published on 01 February 2005

Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus

scientific article published on 01 July 2002

Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid

artículo científico publicado en 2006

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

artículo científico publicado en 2009

Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families ⬇️

artículo científico publicado el 10 de febrero de 2011

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

scientific article published on 08 March 2012

Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23

artículo científico publicado en 2006

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome

artículo científico publicado en 2008

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

artículo científico publicado en 2002

Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analyses

scientific article published on 01 August 2006

PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses

artículo científico publicado en 2005

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

artículo científico publicado en 2007

Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion

artículo científico publicado en 2012

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

artículo científico publicado en 2004

Placental mRNA in maternal plasma and its clinical application to the evaluation of placental status in a pregnant woman with placenta previa-percreta

artículo científico publicado en 2005

Pre- and postnatal overgrowth in a patient with proximal 4p deletion

artículo científico publicado en 2008

Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA: comparison with blood DNA

scientific article published on 01 October 2008

Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D

scientific article published on 01 February 2009

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

artículo científico publicado en 2011

Quantitative structure--activity relationship analysis and molecular dynamics simulation to functionally validate nonsynonymous polymorphisms of human ABC transporter ABCB1 (P-glycoprotein/MDR1).

artículo científico publicado en 2007

SMOC1 is essential for ocular and limb development in humans and mice

artículo científico publicado en 2011

TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations

artículo científico publicado en 2004

The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus

artículo científico publicado en 2004

The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting

artículo científico publicado en 2002

The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain

artículo científico publicado en 2003

The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma

artículo científico publicado en 2010

Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome

artículo científico publicado en 2004

Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome ⬇️

artículo científico publicado el 1 de septiembre de 2010

Lista de obras de

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

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

A ZRS duplication causes syndactyly type IV with tibial hypoplasia

A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1

A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway

A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2.

A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical region

A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate

A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet

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

A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene

A syndactyly type IV locus maps to 7q36.

Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q

Cell-free DNA is more sensitive than cell-free mRNA as a marker for evaluation of fetal-maternal hemorrhage

Circulating cell-free placental mRNA in the maternal plasma as a predictive marker for twin-twin transfusion syndrome

Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders

Clinical applications of plasma circulating mRNA analysis in cases of gestational trophoblastic disease

Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family

Congenital arhinia: molecular-genetic analysis of five patients

Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?

Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies

Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain

Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family

Heterozygous TGFBR2 mutations in Marfan syndrome

Increased level of cell-free placental mRNA in a subgroup of placenta previa that needs hysterectomy

Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: a new clinical entity?

Labor increases maternal DNA contamination in cord blood

Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia

Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus

Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid

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

Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families ⬇️

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

Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analyses

PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses

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

Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion

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

Placental mRNA in maternal plasma and its clinical application to the evaluation of placental status in a pregnant woman with placenta previa-percreta

Pre- and postnatal overgrowth in a patient with proximal 4p deletion

Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA: comparison with blood DNA

Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D

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

Quantitative structure--activity relationship analysis and molecular dynamics simulation to functionally validate nonsynonymous polymorphisms of human ABC transporter ABCB1 (P-glycoprotein/MDR1).

SMOC1 is essential for ocular and limb development in humans and mice

TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations

The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus

The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting

The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain

The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma

Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome

Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome ⬇️