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Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia

Journal of medical genetics, 2009-04, Vol.46 (4), p.281-286

2009

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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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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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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)

Cytogenetics and cell genetics, 2000, Vol.90 (1-2), p.119

2000

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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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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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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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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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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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Melanoma associated with ring chromosome 7

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

1993

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Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?

American journal of medical genetics, 1994-05, Vol.51 (1), p.35-40

1994

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Dysmorphology report holoprosencephaly-polydactyly syndrome: affected brother and sister with a wide spectrum of anomalies

Genetic counseling, 1992, Vol.3 (1), p.57

1992

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Exon skipping associated with A→G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene

Human molecular genetics, 1994-04, Vol.3 (4), p.663-665

1994

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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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Lethal multiple pterygium syndrome: Report of a new case with hydranencephaly

American journal of medical genetics, 1986-11, Vol.25 (3), p.575-579

1986

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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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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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Cutaneous findings in ring chromosome 7 syndrome

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

1993

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Antley-Bixler syndrome from a prognostic perspective

American journal of medical genetics, 1989-02, Vol.32 (2), p.262-263

1989

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Two sisters with Rett syndrome

Journal of autism and developmental disorders, 1990-03, Vol.20 (1), p.129-138

1990

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Ectopic nucleolus organizer regions (NORs) in human testicular tumors

Cytogenetics and cell genetics, 1986, Vol.41 (2), p.107

1986

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Cytogenetic studies of human testicular germ cell tumours

International journal of andrology, 1987-02, Vol.10 (1), p.69-77

1987

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Differences between subcutaneous and intraperitoneal forms of three human testicular teratocarcinomas in nude mice

Cancer, 1988-04, Vol.61 (8), p.1571-1578

1988

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Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia

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

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

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)

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

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

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

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

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

Melanoma associated with ring chromosome 7

Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?

Dysmorphology report holoprosencephaly-polydactyly syndrome: affected brother and sister with a wide spectrum of anomalies

Exon skipping associated with A→G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene

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

Lethal multiple pterygium syndrome: Report of a new case with hydranencephaly

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

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

Cutaneous findings in ring chromosome 7 syndrome

Antley-Bixler syndrome from a prognostic perspective

Two sisters with Rett syndrome

Ectopic nucleolus organizer regions (NORs) in human testicular tumors

Cytogenetic studies of human testicular germ cell tumours

Differences between subcutaneous and intraperitoneal forms of three human testicular teratocarcinomas in nude mice

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