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High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome

Journal of medical genetics, 2007-11, Vol.44 (11), p.702-709

2007

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Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families

Gut, 2001-04, Vol.48 (4), p.515-521

2001

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Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis

Journal of medical genetics, 2005-02, Vol.42 (2), p.185-192

2005

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High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

Human mutation, 2005-12, Vol.26 (6), p.513-519

2005

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Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis

Human molecular genetics, 2000-08, Vol.9 (13), p.2059-2063

2000

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应用蛋白截短技术检测APC基因胚系突变

Journal of genetics and genomics, 2005, Vol.32 (9), p.903-908

刘晓蓉单祥年 Friedl W Uhlhaas S 李金田 Propping P 王亚平

2005

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Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

European journal of human genetics : EJHG, 2004-01, Vol.12 (1), p.52-58

2004

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Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2

Journal of medical genetics, 2000-06, Vol.37 (6), p.452-454

2000

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Apolipoprotein E polymorphism influences the cerebral metabolic pattern in Alzheimer's disease

Neuroscience letters, 1998-09, Vol.254 (1), p.49-52

1998

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Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients

Zhonghua yi xue yi chuan xue za zhi, 2005-06, Vol.22 (3), p.261

2005

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Familial adenomatous polyposis: Aberrant splicing due to missense or silent mutations in the APC gene

Human mutation, 2004-11, Vol.24 (5), p.370-380

2004

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Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers

Human genetics, 2002-07, Vol.111 (1), p.108-111

2002

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Das adoleszente Gehirn

2011

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Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Mutations in brief no. 227. Online

Human mutation, 1999, Vol.13 (3), p.257-258

1999

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Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages

International journal of molecular medicine, 1998-02, Vol.1 (2), p.333

1998

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Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ)

Neurogenetics, 2000-10, Vol.3 (1), p.49-50

2000

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Apolipoprotein E genotype distribution in schizophrenia

Psychiatric genetics, 1996, Vol.6 (2), p.75-80

1996

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Large Deletions in the BRCA1 Gene Are Not Common in a Set of Familial German Breast Cancer Patients

Disease markers, 1999-01, Vol.15 (1-3), p.95-95

1999

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Stability of amino acids in human plasma

Clinica chimica acta, 1985-06, Vol.148 (3), p.255-259

1985

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Free and conjugated CSF and plasma GABA in Huntington's chorea

Acta neurologica Scandinavica, 1986-10, Vol.74 (4), p.261-265

1986

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Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients

Genes chromosomes & cancer, 1999-08, Vol.25 (4), p.403-406

1999

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A rare MspI RFLP of the DMD probe p20 (DXS269)

Human genetics, 1992-04, Vol.89 (1), p.122-122

1992

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MASA syndrome: Clinical variability and linkage analysis

American journal of medical genetics, 1991-10, Vol.41 (1), p.10-14

1991

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Further RFLPs at the human tyrosine hydroxylase locus

Nucleic acids research, 1988-09, Vol.16 (18), p.9078-9078

1988

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No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients

European journal of human genetics : EJHG, 2008-05, Vol.16 (5), p.587-592

2008

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High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome

Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families

Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis

应用蛋白截短技术检测APC基因胚系突变

Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2

Apolipoprotein E polymorphism influences the cerebral metabolic pattern in Alzheimer's disease

Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients

Familial adenomatous polyposis: Aberrant splicing due to missense or silent mutations in the APC gene

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers

Das adoleszente Gehirn

Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Mutations in brief no. 227. Online

Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages

Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ)

Apolipoprotein E genotype distribution in schizophrenia

Large Deletions in the BRCA1 Gene Are Not Common in a Set of Familial German Breast Cancer Patients

Stability of amino acids in human plasma

Free and conjugated CSF and plasma GABA in Huntington's chorea

Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients

A rare MspI RFLP of the DMD probe p20 (DXS269)

MASA syndrome: Clinical variability and linkage analysis

Further RFLPs at the human tyrosine hydroxylase locus

No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients

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