Filtros de búsqueda

Lista de obras de Hans Scheffer

68 LOSS OF HETEROZYGOSITY OF CHROMOSOME 13 IN OSTEOSARCOMA

A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing

artículo científico publicado en 1997

A Cystic Fibrosis Mutation Associated with Mild Lung Disease

artículo científico publicado en 1995

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

artículo científico publicado en 2013

A case of neuromuscular mimicry

artículo científico publicado en 2006

A four-allele RFLP identified by an anonymous single copy genomic clone at 13q21-13qter [HGM8 assignment no. D13S12]

artículo científico publicado en 1986

A giant congenital orbital tumor: An unusual presentation of retinoblastoma

artículo científico publicado en 1994

A high frequency RFLP identified by an anonymous single copy genomic clone at 13q14.1-13q14.2 [HGM8 assignment no. D13S22]. ⬇️

artículo científico publicado en 1987

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.

artículo científico publicado en 2010

A human glioblastoma line with karyotypic nullisomy 13 containing several chromosome 13-specific sequences

artículo científico publicado en 1988

A natural history study of late onset spinal muscular atrophy types 3b and 4.

artículo científico publicado en 2008

A novel mutation (G1249R) in exon 20 of the CFTR gene

article

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

artículo científico publicado en 2008

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

artículo científico publicado en 2008

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

artículo científico publicado en 2012

Allele sharing on chromosome 11q13 in sibs with asthma and atopy

scientific article published in The Lancet

Allelic Imbalance Analysis Using a Single-Nucleotide Polymorphism Microarray for the Detection of Bladder Cancer Recurrence

An anonymous single copy genomic clone at 13q12-13q13 identifies three RFLPs [HGM8 assignment no. D13S11].

artículo científico publicado en 1986

An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1)

artículo científico publicado en 2009

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

artículo científico

Apparent SMA I unlinked to 5q.

artículo científico publicado en 1994

Association between angiotensin-converting-enzyme gene polymorphism and failure of renoprotective therapy

artículo científico publicado en 1996

Association of the dopamine transporter (SLC6A3/DAT1) gene 9-6 haplotype with adult ADHD.

artículo científico publicado en 2008

Autosomal recessive cerebellar ataxias: the current state of affairs

artículo científico publicado en 2011

Autosomal recessive inheritance of GLUT1 deficiency syndrome

artículo científico publicado en 2009

Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity.

artículo científico publicado en 2004

BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy

artículo científico publicado en 2006

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

artículo científico publicado en 2012

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations

artículo científico publicado en 2008

C.P.3 Genetic and clinical heterogeneity of RYR1-related myopathies in a cohort of 60 Dutch families with identification of 40 novel mutations

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

scientific article published on 15 August 2007

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review

artículo científico publicado en 2013

Chromosomal sublocalization of the 2;13 translocation breakpoint in alveolar rhabdomyosarcoma

artículo científico publicado en 1992

Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy

artículo científico publicado en 2009

Clinical exome sequencing in daily practice: 1,000 patients and beyond

artículo científico publicado en 2014

Complete association of loss of heterozygosity of chromosomes 13 and 17 in osteosarcoma

artículo científico publicado en 1991

Comprehensive and accurate mutation scanning of theCFTR gene by two-dimensional DNA electrophoresis

article

Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

artículo científico publicado en 2005

Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene

artículo científico publicado en 2009

Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison.

artículo científico publicado en 2009

Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence?

artículo científico

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in persons with severe intellectual disability

article by Joep de Ligt et al published 15 November 2012 in The New England Journal of Medicine

Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype

artículo científico publicado en 2011

Dystrophic Epidermolysis Bullosa Inversa with COL7A1 Mutations and Absence of GDA-J/F3 Protein

EEC syndrome, Arg227GlnTP63 mutation and micturition difficulties: Is there a genotype–phenotype correlation?

scientific article published on 01 May 2007

Ectodermal dysplasia with tetramelic deficiencies and no mutation inp63: Odontotrichomelic syndrome or a new entity?

artículo científico publicado en 2004

Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex

artículo científico publicado en 1996

Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in theKRT5 gene in further patients

article

Exempting Homologous Pseudogene Sequences from Polymerase Chain Reaction Amplification Allows Genomic Keratin 14 Hotspot Mutation Analysis

scientific article published on 01 April 2000

Expanding the clinical spectrum of MYCN-related Feingold syndrome

artículo científico publicado en 2006

Extended gene analysis can increase specificity of neonatal screening for cystic fibrosis.

artículo científico publicado en 2006

Frequency of the delta F508 mutation and XV2c,KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without delta F508 still in disequilibrium

artículo científico publicado en 1990

GLUT1 deficiency with delayed myelination responding to ketogenic diet.

artículo científico publicado en 2007

Gene expression profiling in rheumatoid arthritis: current concepts and future directions

artículo científico publicado en 2008

Genetic variants in toll-like receptors are not associated with rheumatoid arthritis susceptibility or anti-tumour necrosis factor treatment outcome

artículo científico publicado en 2010

Genetic variation in ataxia gene ATXN7 influences cerebellar grey matter volume in healthy adults

artículo científico publicado en 2013

Genome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritis

artículo científico publicado en 2012

Genome-wide association study confirms extant PD risk loci among the Dutch

artículo científico publicado en 2011

Genotype-phenotype correlations in MYCN-related Feingold syndrome

artículo científico publicado en 2008

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort

artículo científico publicado en 2012

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

artículo científico publicado en 2010

Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online

artículo científico publicado en 1999

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart

artículo científico publicado en 2000

HTR2C gene polymorphisms and the metabolic syndrome in patients with schizophrenia: a replication study

artículo científico publicado en 2009

Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations

artículo científico publicado en 1996

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

artículo científico publicado en 2010

Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up

artículo científico publicado en 2003

Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors

artículo científico publicado en 2004

Human uteroglobin gene: structure, subchromosomal localization, and polymorphism

artículo científico publicado en 1997

Identification of Key Recombinants in Multiplex SMA Families

artículo científico publicado en 1994

Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes

article

Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa

artículo científico publicado en 1997

Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance

artículo científico publicado en 2002

Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.

artículo científico publicado en 2010

LINKAGE OF DNA MARKERS ON CHROMOSOME 13 WITH WILSON DISEASE

Linkage analysis in families with hereditary retinoblastoma

Linkage and apparent heterogeneity in proximal spinal muscular atrophies

scientific article published on 01 July 1993

Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease

artículo científico publicado en 1987

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations

artículo científico publicado en 2009

MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course

artículo científico publicado en 2008

Massively parallel sequencing of ataxia genes after array-based enrichment

artículo científico publicado en 2010

Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.

artículo científico publicado en 2014

Milder phenotypes of glucose transporter type 1 deficiency syndrome

artículo científico publicado en 2011

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

artículo científico publicado en 2012

Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder

artículo científico publicado en 2004

Mutation Frequency of Cystic Fibrosis Transmembrane Regulator is not Increased in Oligozoospermic Male Candidates For Intracytoplasmic Sperm Injection

artículo científico publicado en 1998

Mutational analysis of TARDBP in Parkinson's disease

artículo científico publicado en 2012

Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene

article

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy

artículo científico publicado en 2013

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

scientific journal article

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

artículo científico publicado en 2012

Neurophysiologic studies in early-onset cerebellar ataxia

artículo científico publicado en 2006

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-generation genetic testing for retinitis pigmentosa

artículo científico publicado en 2012

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

artículo científico publicado en 2010

Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients

artículo científico publicado en 2013

P.P.4 01 Glyc-O-genetics of Walker–Warburg syndrome and related disorders

article

PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

scientific article published in The Lancet

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

artículo científico publicado en 2005

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

scientific article published on 17 September 2008

Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex

artículo científico publicado en 2002

Persistent failures in gene repair

article

Pharmacogenetics of anti-TNF treatment in patients with rheumatoid arthritis

artículo científico publicado en 2007

Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction

scientific article published on 01 September 1992

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

artículo científico publicado en 2013

Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands

artículo científico publicado en 1996

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

artículo científico publicado en 2013

Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis

artículo científico publicado en 2009

Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis

artículo científico publicado en 2000

Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I

artículo científico publicado en 1995

Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country

artículo científico publicado en 1998

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

artículo científico publicado en 1997

SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

artículo científico publicado en 2000

SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS

artículo científico publicado en 2005

Search for genes predisposing to atopic diseases

artículo científico publicado en 1996

Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes.

artículo científico publicado en 2009

Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively

artículo científico publicado en 2005

Spastin mutations in sporadic adult-onset upper motor neuron syndromes

article

Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)

artículo científico publicado en 2009

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

artículo científico publicado en 2010

The anonymous probe pG50 identifying the locus D13S24 detects a two allele RFLP with SspI.

artículo científico publicado en 1989

The association between HTR2C gene polymorphisms and the metabolic syndrome in patients with schizophrenia

artículo científico publicado en 2007

The association between HTR2C polymorphisms and obesity in psychiatric patients using antipsychotics: a cross-sectional study

article by H Mulder et al published 3 October 2006 in The Pharmacogenomics Journal

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol ⬇️

artículo científico publicado el 1 de octubre de 1997

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

artículo científico publicado en 2006

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

artículo científico publicado en 2010

The single copy probe pG24E2.4 [D13S21] reveals a Bsp1286 RFLP at 13q14.1-q14.2.

artículo científico publicado en 1989

The tumour necrosis factor receptor superfamily member 1b 676T>G polymorphism in relation to response to infliximab and adalimumab treatment and disease severity in rheumatoid arthritis

article

Three novel KCNA1 mutations in episodic ataxia type I families

artículo científico publicado en 1998

Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy

scientific article published on 01 September 2000

Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype

artículo científico publicado en 1999

Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense

artículo científico publicado en 2000

Validation of the determination of deltaF508 mutations of the cystic fibrosis gene in over 11 000 mouthwashes

scientific article published on 01 March 1996

Validation of the determination of ΔF508 mutations of the cystic fibrosis gene in over 11000 mouthwashes

article

Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis

artículo científico publicado en 2012

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics

artículo científico publicado en 2013

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda