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Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

Journal of Medical Genetics, 2012-09, Vol.49 (9), p.547-553

2012

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Silver-Russell syndrome: genetic basis and molecular genetic testing

Orphanet journal of rare diseases, 2010-06, Vol.5 (1), p.19-19, Article 19

2010

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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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Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci

Epigenetics, 2012-05, Vol.7 (5), p.473-481

2012

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Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features

The Journal of pediatrics, 2012-11, Vol.161 (5), p.933-942.e1

2012

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Congenital Imprinting Disorders: A Novel Mechanism Linking Seemingly Unrelated Disorders

The Journal of pediatrics, 2013-10, Vol.163 (4), p.1202-1207

2013

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Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.356-359

2010

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Epigenetic and genetic diagnosis of Silver-Russell syndrome

Expert review of molecular diagnostics, 2012-06, Vol.12 (5), p.459-471

2012

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Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour

European journal of human genetics : EJHG, 2013-07, Vol.21 (7), p.788-791

2013

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Disturbed methylation at multiple imprinted loci: an increasing observation in imprinting disorders

Epigenomics, 2011-10, Vol.3 (5), p.625-637

2011

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Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation

American journal of medical genetics. Part A, 2012-02, Vol.158A (2), p.423-428

2012

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2p21 Deletions in hypotonia–cystinuria syndrome

European journal of medical genetics, 2012-10, Vol.55 (10), p.561-563

2012

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Multi-exon deletion in the XDH gene as a cause of classical xanthinuria

Clinical nephrology, 2013-01, Vol.79 (1), p.78

2013

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Molekulargenetische Diagnostik von Imprinting-Erkrankungen

Biospektrum, 2013-11, Vol.19 (7), p.753-758

2013

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Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15)

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1484-1487

2010

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Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations

European journal of medical genetics, 2009-11, Vol.52 (6), p.415-416

2009

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Genetic and epigenetic findings in Silver-Russell syndrome

Pediatric endocrinology reviews : PER, 2010-12, Vol.8 (2), p.86

2010

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Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: Characterization and evaluation of the aberrations

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.736-740

2014

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Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome

Genetic testing and molecular biomarkers, 2011-10, Vol.15 (10), p.725

2011

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Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2815-2819

2012

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MBD3 mutations are not responsible for ICR1 hypomethylation in Silver–Russell syndrome

European journal of medical genetics, 2010-01, Vol.53 (1), p.23-24, Article 23

2010

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IGF1R mutation analysis in short children with Silver-Russell syndrome features

Journal of pediatric genetics (Birmingham, Ala.), 2013-09, Vol.2 (3), p.113-117

2013

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Molecular Genetic Testing in Cystinuria

International journal of human genetics, 2011-03, Vol.11 (1), p.41-44

2011

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Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: Another case of Yunis-Varón syndrome or report of a new entity

European journal of medical genetics, 2012-01, Vol.55 (1), p.27-31

2012

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Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

Silver-Russell syndrome: genetic basis and molecular genetic testing

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

Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci

Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features

Congenital Imprinting Disorders: A Novel Mechanism Linking Seemingly Unrelated Disorders

Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region

Epigenetic and genetic diagnosis of Silver-Russell syndrome

Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

Disturbed methylation at multiple imprinted loci: an increasing observation in imprinting disorders

Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation

2p21 Deletions in hypotonia–cystinuria syndrome

Multi-exon deletion in the XDH gene as a cause of classical xanthinuria

Molekulargenetische Diagnostik von Imprinting-Erkrankungen

Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15)

Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations

Genetic and epigenetic findings in Silver-Russell syndrome

Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: Characterization and evaluation of the aberrations

Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome

Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10

MBD3 mutations are not responsible for ICR1 hypomethylation in Silver–Russell syndrome

IGF1R mutation analysis in short children with Silver-Russell syndrome features

Molecular Genetic Testing in Cystinuria

Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: Another case of Yunis-Varón syndrome or report of a new entity

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