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The clinical spectrum of complete FBN1 allele deletions

European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.247-252

2011

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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

American journal of human genetics, 2011-11, Vol.89 (5), p.634-643

2011

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Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1

European journal of medical genetics, 2022-11, Vol.65 (11), p.104576-104576, Article 104576

2022

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A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy

European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.480-485

2014

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Molecular analyses in Indonesian individuals with intellectual disability and microcephaly

Paediatrica Indonesiana, 2013-04, Vol.53 (2), p.83-8

2013

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Neurologic Aspects of MECP2 Gene Duplication in Male Patients

Pediatric neurology, 2009-09, Vol.41 (3), p.187-191

2009

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Fibrillin-1 staining anomalies are associated with increased staining for TGF-β and elastic fibre degradation; new clues to the pathogenesis of emphysema

The Journal of pathology, 2009-08, Vol.218 (4), p.446-457

2009

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Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion

Gene, 2012-12, Vol.511 (2), p.451-454

2012

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Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

American journal of medical genetics. Part A, 2006-11, Vol.140A (22), p.2387-2393

2006

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XLMR genes: update 2000

European journal of human genetics : EJHG, 2001-02, Vol.9 (2), p.71-81

2001

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Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

Neurogenetics, 2008-07, Vol.9 (3), p.183-190

2008

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Fibrillin-I staining anomalies are associated with increased staining for TGF-β and elastic fibre degradation; new clues to the pathogenesis of emphysema

The Journal of pathology, 2009, Vol.218 (4), p.446-457

2009

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MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics

European journal of human genetics : EJHG, 2004-01, Vol.12 (1), p.24-28

2004

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Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome

American journal of medical genetics. Part A, 2006-03, Vol.140A (6), p.618-623

2006

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Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity

European journal of haematology, 2006-01, Vol.76 (1), p.33-41

2006

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A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome

European journal of human genetics : EJHG, 2000-06, Vol.8 (6), p.464-467

2000

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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

European journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.697-697

2009

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Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects

Clinical genetics, 1998-02, Vol.53 (2), p.119-125

1998

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Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

European journal of human genetics : EJHG, 2009-04, Vol.17 (5), p.697-697

2009

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Prader–Willi Syndrome and Angelman Syndrome in Cousins from a Family with a Translocation between Chromosomes 6 and 15

The New England journal of medicine, 1992-03, Vol.326 (12), p.807-811

1992

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A Mutation in COL9A2 Causes Multiple Epiphyseal Dysplasia (EDM2)

Annals of the New York Academy of Sciences, 1996-06, Vol.785 (1), p.303-306

1996

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Molecular analyses in Indonesian individuals with intellectual disability and microcephaly

Paediatrica Indonesiana, 2013-03, Vol.53 (2), p.83-88

2013

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Brief Report: Prader-Willi Syndrome and Angelman Syndrome in Cousins from a Family with a Translocation between Chromosomes 6 and 15

The New England journal of medicine, 1992-03, Vol.326 (12), p.807

1992

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The clinical spectrum of complete FBN1 allele deletions

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy

Molecular analyses in Indonesian individuals with intellectual disability and microcephaly

Neurologic Aspects of MECP2 Gene Duplication in Male Patients

Fibrillin-1 staining anomalies are associated with increased staining for TGF-β and elastic fibre degradation; new clues to the pathogenesis of emphysema

Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

XLMR genes: update 2000

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

Fibrillin-I staining anomalies are associated with increased staining for TGF-β and elastic fibre degradation; new clues to the pathogenesis of emphysema

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome

Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects

Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Prader–Willi Syndrome and Angelman Syndrome in Cousins from a Family with a Translocation between Chromosomes 6 and 15

A Mutation in COL9A2 Causes Multiple Epiphyseal Dysplasia (EDM2)

Molecular analyses in Indonesian individuals with intellectual disability and microcephaly

Brief Report: Prader-Willi Syndrome and Angelman Syndrome in Cousins from a Family with a Translocation between Chromosomes 6 and 15

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