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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)

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

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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338 DELINEATION OF TWO SUBTLE CHROMOSOME DUPLICATIONS, 4p16 AND 22q11.2, IN A THREE-GENERATION FAMILY WITH MENTAL RETARDATION BY FLUORESCENT IN SITU HYBRIDIZATION AND ARRAY COMPARATIVE GENOMIC HYBRIDIZATION

Journal of investigative medicine, 2006-01, Vol.54 (1), p.S138-S138

2006

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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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Non-disjunction of chromosome 13

Human molecular genetics, 2007-08, Vol.16 (16), p.2004-2010

2007

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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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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 counseling in pediatric ophthalmology (author's transl)

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

1981

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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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Cutaneous findings in ring chromosome 7 syndrome

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

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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Melanoma associated with ring chromosome 7

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

1993

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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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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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117 SPLIT HAND-SPLIT FOOT MALFORMATION 3 AT 10Q24: CLINICAL AND LABORATORY DIAGNOSIS AND GENE SEARCH

Journal of investigative medicine, 2006-01, Vol.54 (1), p.S100-S100

2006

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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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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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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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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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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

338 DELINEATION OF TWO SUBTLE CHROMOSOME DUPLICATIONS, 4p16 AND 22q11.2, IN A THREE-GENERATION FAMILY WITH MENTAL RETARDATION BY FLUORESCENT IN SITU HYBRIDIZATION AND ARRAY COMPARATIVE GENOMIC HYBRIDIZATION

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

Non-disjunction of chromosome 13

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

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

Genetic counseling in pediatric ophthalmology (author's transl)

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

Cutaneous findings in ring chromosome 7 syndrome

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

Melanoma associated with ring chromosome 7

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

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

117 SPLIT HAND-SPLIT FOOT MALFORMATION 3 AT 10Q24: CLINICAL AND LABORATORY DIAGNOSIS AND GENE SEARCH

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

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

Double frameshift mutations in APC and MSH2 in the same individual

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

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