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Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome

Clinical genetics, 2015-09, Vol.88 (3), p.261-266

2015

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Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism

Journal of medical genetics, 2004-04, Vol.41 (4), p.289-292

2004

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Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome

Clinical genetics, 2011-11, Vol.80 (5), p.478-483

2011

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Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome

Journal of clinical pathology, 2006-10, Vol.59 (10), p.1084-1086

2006

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Decreased cell-free but not exosomal miR-518b in maternal plasma is caused by amniocentesis

Clinical and experimental obstetrics & gynecology, 2018-01, Vol.45 (6), p.875-879

2018

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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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Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: A candidate gene for skeletal dysplasia

Genomics (San Diego, Calif.), 1997-10, Vol.45 (2), p.425-428

1997

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Transforming Growth Factor-α (TGFA): Genomic Structure, Boundary Sequences, and Mutation Analysis in Nonsyndromic Cleft Lip/Palate and Cleft Palate Only

Genomics (San Diego, Calif.), 1999-11, Vol.61 (3), p.237-242

1999

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Association between Breast Cancer Risk and the Wild-type Allele of Human ABC Transporter ABCC11

Anticancer research, 2010-12, Vol.30 (12), p.5189-5194

2010

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Microdissection and Microcloning of Genomic DNA Markers from Human Chromosomal Region 11q23

Genomics (San Diego, Calif.), 1993-04, Vol.16 (1), p.169-172

1993

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Interferon Regulatory Factor 6 (IRF6) Gene Variants and the Risk of Isolated Cleft Lip or Palate

The New England journal of medicine, 2004-08, Vol.351 (8), p.769-780

2004

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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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P2-06-01: Genomic Instability in Breast Cancers from Atomic Bomb Survivors: An Analysis of Microarray-Comparative Genomic Hybridization with Old Archival Tissues

Cancer research (Chicago, Ill.), 2011-12, Vol.71 (24_Supplement), p.P2-P2-06-01

2011

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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

Human reproduction (Oxford), 2010-04, Vol.25 (4), p.1076-1080

2010

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

Human genetics, 2003-03, Vol.112 (3), p.220-226

2003

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Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1

Human mutation, 1997, Vol.9 (2), p.177-180

1997

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Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene

Gene, 2001-11, Vol.279 (2), p.197-204

2001

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Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23

Genomics (San Diego, Calif.), 2003-08, Vol.82 (2), p.238-244

2003

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Inv dup del(4)(:p14 → p16.3::p16.3 → qter) with manifestations of partial duplication 4p and Wolf‐Hirschhorn syndrome

American journal of medical genetics, 2003-07, Vol.120A (1), p.123-126

2003

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A comparison of GC content and the proportion of Alu/KpnI-repetitive sequences in a single dark- and light-band region from a human chromosome

Genomics (San Diego, Calif.), 1994-03, Vol.20 (2), p.243-248

1994

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Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family

American journal of medical genetics, 2001-11, Vol.104 (2), p.147-151

2001

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

American journal of medical genetics, 2004-05, Vol.127A (1), p.104-107

2004

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Characterization of a Novel Gene Disrupted by a Balanced Chromosomal Translocation t(2;19)(q11.2;q13.3) in a Family with Cleft Lip and Palate

Genomics (San Diego, Calif.), 1998-12, Vol.54 (2), p.231-240

1998

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

Journal of human genetics, 2002-03, Vol.47 (3), p.136-139

2002

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A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome

International journal of molecular medicine, 2003-04, Vol.11 (4), p.505

2003

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Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome

Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism

Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome

Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome

Decreased cell-free but not exosomal miR-518b in maternal plasma is caused by amniocentesis

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

Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: A candidate gene for skeletal dysplasia

Transforming Growth Factor-α (TGFA): Genomic Structure, Boundary Sequences, and Mutation Analysis in Nonsyndromic Cleft Lip/Palate and Cleft Palate Only

Association between Breast Cancer Risk and the Wild-type Allele of Human ABC Transporter ABCC11

Microdissection and Microcloning of Genomic DNA Markers from Human Chromosomal Region 11q23

Interferon Regulatory Factor 6 (IRF6) Gene Variants and the Risk of Isolated Cleft Lip or Palate

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

P2-06-01: Genomic Instability in Breast Cancers from Atomic Bomb Survivors: An Analysis of Microarray-Comparative Genomic Hybridization with Old Archival Tissues

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

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

Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1

Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23

Inv dup del(4)(:p14 → p16.3::p16.3 → qter) with manifestations of partial duplication 4p and Wolf‐Hirschhorn syndrome

A comparison of GC content and the proportion of Alu/KpnI-repetitive sequences in a single dark- and light-band region from a human chromosome

Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family

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

Characterization of a Novel Gene Disrupted by a Balanced Chromosomal Translocation t(2;19)(q11.2;q13.3) in a Family with 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 novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome

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