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Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1676-1687

2022

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Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer

Journal of medical genetics, 2024-02, Vol.61 (2), p.150

2024

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Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

European journal of human genetics : EJHG, 2024-03, Vol.32 (3), p.333-341

2024

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A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

Prenatal diagnosis, 2017-11, Vol.37 (11), p.1146-1154

2017

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The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss

Human mutation, 2006-08, Vol.27 (8), p.786-795

2006

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Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype

American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1217-1224

2011

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Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

Clinical genetics, 2009-12, Vol.76 (6), p.524-534

2009

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Chimerism resulting from parthenogenetic activation and dispermic fertilization

American journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2277-2286

2010

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The influence of genetic variation in oxidative stress genes on human noise susceptibility

Hearing research, 2005-04, Vol.202 (1-2), p.87-96

2005

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Connexin 26 (GJB2) mutations in two swedish patients with atypical vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin

Acta dermato-venereologica, 2006, Vol.86 (6), p.503-508

2006

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A Novel Nonsense Mutation of the Mineralocorticoid Receptor Gene in a Swedish Family with Pseudohypoaldosteronism Type I (PHA1)

The journal of clinical endocrinology and metabolism, 2004-01, Vol.89 (1), p.227-231

2004

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Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

Human molecular genetics, 1995-04, Vol.4 (4), p.615-621

1995

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1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

European journal of human genetics : EJHG, 2004-10, Vol.12 (10), p.787-789

2004

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Molecular and phenotypic variation in patients with severe Hunter syndrome

Human molecular genetics, 1997-03, Vol.6 (3), p.479-486

1997

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Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients

Human genetics, 1998-12, Vol.103 (6), p.732-735

1998

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Double-Strand Breaks May Initiate the Inversion Mutation Causing the Hunter Syndrome

Human molecular genetics, 1997-04, Vol.6 (4), p.627-633

1997

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Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II

European journal of human genetics : EJHG, 1998-09, Vol.6 (5), p.492-500

1998

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Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene

Human mutation, 2000-01, Vol.15 (4), p.324-331

2000

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Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions

Human mutation, 1999-12, Vol.14 (6), p.471-476

1999

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Two distinct deletions in the IDS gene and the gene W : A novel type of mutation associated with the Hunter syndrome

Genomics (San Diego, Calif.), 1997-07, Vol.43 (2), p.123-129

1997

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Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome

European journal of human genetics : EJHG, 1995, Vol.3 (4), p.219-227

1995

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Identification of an Alternative Transcript from the Human Iduronate-2-sulfatase (IDS) Gene

Genomics (San Diego, Calif.), 1995-09, Vol.29 (1), p.291-293

1995

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Mucopolysaccharidoses. New therapeutic possibilities increase the need of early diagnosis

Läkartidningen, 2002-04, Vol.99 (16), p.1804-1809

2002

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1024C > T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family

European journal of human genetics : EJHG, 2004, Vol.12 (10), p.787

2004

Volltextzugriff (PDF)

Linkage mapping of a severe X-linked mental retardation syndrome

American journal of human genetics, 1993-06, Vol.52 (6), p.1046-1052

1993

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Iduronate Sulfatase - Genetics
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Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

Chimerism resulting from parthenogenetic activation and dispermic fertilization

The influence of genetic variation in oxidative stress genes on human noise susceptibility

Connexin 26 (GJB2) mutations in two swedish patients with atypical vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin

A Novel Nonsense Mutation of the Mineralocorticoid Receptor Gene in a Swedish Family with Pseudohypoaldosteronism Type I (PHA1)

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

Molecular and phenotypic variation in patients with severe Hunter syndrome

Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients

Double-Strand Breaks May Initiate the Inversion Mutation Causing the Hunter Syndrome

Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II

Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene

Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions

Two distinct deletions in the IDS gene and the gene W : A novel type of mutation associated with the Hunter syndrome

Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome

Identification of an Alternative Transcript from the Human Iduronate-2-sulfatase (IDS) Gene

Mucopolysaccharidoses. New therapeutic possibilities increase the need of early diagnosis

1024C > T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family

Linkage mapping of a severe X-linked mental retardation syndrome

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