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Mutations in the DNAH11 (Axonemal Heavy Chain Dynein type 11) Gene Cause One Form of Situs Inversus Totalis and Most Likely Primary Ciliary Dyskinesia

Proceedings of the National Academy of Sciences - PNAS, 2002-08, Vol.99 (16), p.10282-10286

2002

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Double frameshift mutations in APC and MSH2 in the same individual

International journal of colorectal disease, 2005-09, Vol.20 (5), p.466-470

2005

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Split Hand-Split Foot Malformation 3 at 10Q24: Clinical and Laboratory Diagnosis and Gene Search

Journal of investigative medicine, 2006-01, Vol.54 (1_suppl), p.100-100

2006

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Double frameshift mutations in APC and MSH2 in the same individual

International journal of colorectal disease, 2006, Vol.21 (1), p.79-83

2006

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Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

European journal of human genetics : EJHG, 2000-02, Vol.8 (2), p.109-118

2000

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Axonemal Beta Heavy Chain Dynein DNAH9: cDNA Sequence, Genomic Structure, and Investigation of Its Role in Primary Ciliary Dyskinesia

Genomics (San Diego, Calif.), 2001-02, Vol.72 (1), p.21-33

2001

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Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq

Journal of medical genetics, 1998-04, Vol.35 (4), p.297-300

1998

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MEHMO, a novel syndrome: assignment of disease locus to Xp21.1–p22.13

European journal of human genetics : EJHG, 1999-09, Vol.7 (6), p.621-622

1999

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Diaphragmatic hernia, hydrocephalus, and cardiac malformations in four pregnancies of a non-consanguineous couple

Journal of medical genetics, 2001-04, Vol.38 (4), p.269-271

2001

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No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD)

Cytogenetic and genome research, 2000-01, Vol.90 (1-2), p.119-122

2000

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Structural anomalies of the X chromosome: personal observation and review of non-mosaic cases

Clinical genetics, 1982-02, Vol.21 (2), p.145-159

1982

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Genetic and endocrine findings in a 48,XXYY male

The journal of clinical endocrinology and metabolism, 1980-04, Vol.50 (4), p.740-743

1980

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Genetic counseling in pediatric ophthalmology (author's transl)

Therapeutische Umschau, 1981-03, Vol.38 (3), p.256

1981

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Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child

American journal of medical genetics, 2000-12, Vol.95 (5), p.444-449

2000

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The syndrome of multisynostotic osteodysgenesis with long-bone fractures

American journal of medical genetics, 1980, Vol.7 (3), p.391-403

1980

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Isochromosome 12p in malignant testicular tumors

Cancer genetics and cytogenetics, 1985-01, Vol.15 (3), p.375-376

1985

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Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping

Cytogenetics and cell genetics, 1999, Vol.84 (3-4), p.188

1999

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The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease

Journal of medical genetics, 1996-02, Vol.33 (2), p.132-136

1996

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Uniparental disomy, isodisomy, and imprinting: Probable effects in man and strategies for their detection

American journal of medical genetics, 1991-09, Vol.40 (4), p.432-439

1991

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Trisomy 3 mosaicism on CVS: case report with literature review and propositions for investigation and counseling

Clinical genetics, 1995-12, Vol.48 (6), p.308-312

1995

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Cutaneous findings in ring chromosome 7 syndrome

Dermatology (Basel), 1993-01, Vol.186 (2), p.84-87

1993

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Chromosomal damage in lymphocytes and fibroblasts of patients treated for testicular cancer

Human genetics, 1990-10, Vol.85 (6), p.675-676

DeLozier-Blanchet, C D

1990

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A human testicular germ cell tumor with borderline histology between seminoma and embryonal carcinoma secreted beta‐human chorionic gonadotropin and alpha‐fetoprotein only as a xenograft

Cancer, 1986-07, Vol.58 (1), p.139-146

1986

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Melanoma associated with ring chromosome 7

Dermatology (Basel), 1993-01, Vol.186 (2), p.138-143

1993

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Trisomy 7 in chorionic villi: Follow-up studies of pregnancy, normal child, and placental clonal anomalies

Prenatal diagnosis, 1988-05, Vol.8 (4), p.281-286

1988

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Mutations in the DNAH11 (Axonemal Heavy Chain Dynein type 11) Gene Cause One Form of Situs Inversus Totalis and Most Likely Primary Ciliary Dyskinesia

Double frameshift mutations in APC and MSH2 in the same individual

Split Hand-Split Foot Malformation 3 at 10Q24: Clinical and Laboratory Diagnosis and Gene Search

Double frameshift mutations in APC and MSH2 in the same individual

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

Axonemal Beta Heavy Chain Dynein DNAH9: cDNA Sequence, Genomic Structure, and Investigation of Its Role in Primary Ciliary Dyskinesia

Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq

MEHMO, a novel syndrome: assignment of disease locus to Xp21.1–p22.13

Diaphragmatic hernia, hydrocephalus, and cardiac malformations in four pregnancies of a non-consanguineous couple

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD)

Structural anomalies of the X chromosome: personal observation and review of non-mosaic cases

Genetic and endocrine findings in a 48,XXYY male

Genetic counseling in pediatric ophthalmology (author's transl)

Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child

The syndrome of multisynostotic osteodysgenesis with long-bone fractures

Isochromosome 12p in malignant testicular tumors

Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease

Uniparental disomy, isodisomy, and imprinting: Probable effects in man and strategies for their detection

Trisomy 3 mosaicism on CVS: case report with literature review and propositions for investigation and counseling

Cutaneous findings in ring chromosome 7 syndrome

Chromosomal damage in lymphocytes and fibroblasts of patients treated for testicular cancer

A human testicular germ cell tumor with borderline histology between seminoma and embryonal carcinoma secreted beta‐human chorionic gonadotropin and alpha‐fetoprotein only as a xenograft

Melanoma associated with ring chromosome 7

Trisomy 7 in chorionic villi: Follow-up studies of pregnancy, normal child, and placental clonal anomalies

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