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The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

American journal of medical genetics. Part A, 2008-12, Vol.146A (24), p.3157-3166

2008

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TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome

Human mutation, 2006-08, Vol.27 (8), p.770-777

2006

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Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation

Pediatrics (Evanston), 2009-05, Vol.123 (5), p.e929

2009

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Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.e1-150

2016

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Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome

Human mutation, 2005-12, Vol.26 (6), p.529-539

2005

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Clinical utility gene card for: Loeys-Dietz syndrome ( ) and related phenotypes

European journal of human genetics : EJHG, 2011-10, Vol.19 (10), p.1108-1108

2011

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High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections

Molecular and cellular probes, 2013-04, Vol.27 (2), p.103-108

2013

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Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations

Human mutation, 2002-11, Vol.20 (5), p.406-407

2002

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Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

Journal of medical genetics, 2008-06, Vol.45 (6), p.384-390

2008

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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

European journal of human genetics : EJHG, 2009-04, Vol.17 (4), p.491-501

2009

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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

European journal of human genetics : EJHG, 2004-11, Vol.12 (11), p.879-890

2004

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Cardiovascular manifestations in men and women carrying a FBN1 mutation

European heart journal, 2010-09, Vol.31 (18), p.2223-2229

2010

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Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome

Human mutation, 1999, Vol.14 (2), p.181-181

1999

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The importance of genetic testing in the clinical management of patients with Marfan syndrome and related disorders

Deutsches Ärzteblatt international, 2008-07, Vol.105 (27), p.483-491

2008

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NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?

European journal of medical genetics, 2016-10, Vol.59 (10), p.493-498

2016

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Patient with trisomy 6 mosaicism

American journal of medical genetics, 2001-04, Vol.100 (2), p.103-105

2001

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Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

Pediatric research, 2011-03, Vol.69 (3), p.265-270

2011

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Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [ ]

European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.1071-1071

2010

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SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

Journal of neurology, 2012-03, Vol.259 (3), p.515-523

2012

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Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome

Journal of molecular and cellular cardiology, 2007-02, Vol.42 (2), p.352-356

2007

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TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome

Journal of negative results in biomedicine, 2012-02, Vol.11 (1), p.9-9, Article 9

2012

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Performance of a new quantitative method for assessing dural ectasia in patients with FBN1 mutations and clinical features of Marfan syndrome

Neuroradiology, 2009-06, Vol.51 (6), p.397-400

2009

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Kongenitale subglottische Larynxstenose bei zwei Brüdern mit einem Chondrodysplasiesyndrom (Keutel-Gabriel-Syndrom)

Laryngo- rhino- otologie, 1998-07, Vol.77 (7), p.363-366

1998

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Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome

European journal of medical genetics, 2010-09, Vol.53 (5), p.280-285

2010

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The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome

Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome

Clinical utility gene card for: Loeys-Dietz syndrome ( ) and related phenotypes

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections

Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Cardiovascular manifestations in men and women carrying a FBN1 mutation

Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

The importance of genetic testing in the clinical management of patients with Marfan syndrome and related disorders

NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?

Patient with trisomy 6 mosaicism

Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [ ]

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome

TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome

Performance of a new quantitative method for assessing dural ectasia in patients with FBN1 mutations and clinical features of Marfan syndrome

Kongenitale subglottische Larynxstenose bei zwei Brüdern mit einem Chondrodysplasiesyndrom (Keutel-Gabriel-Syndrom)

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome

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