UB Paderborn / Katalog / Suche / in CDI

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Neuromuscular disorders : NMD, 2018-03, Vol.28 (3), p.208-215

2018

Volltextzugriff (PDF)

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

Proceedings of the National Academy of Sciences - PNAS, 2008-11, Vol.105 (47), p.18608-18613

2008

Volltextzugriff (PDF)

Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing

PloS one, 2015-10, Vol.10 (10), p.e0141735-e0141735

2015

Volltextzugriff (PDF)

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

BioMed research international, 2014-01, Vol.2014, p.195793-8

2014

Volltextzugriff (PDF)

Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis

BMC cancer, 2010-08, Vol.10 (1), p.407-407, Article 407

2010

Volltextzugriff (PDF)

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss

European journal of human genetics : EJHG, 2008-08, Vol.16 (8), p.888-896

2008

Volltextzugriff (PDF)

Progress and challenges in developing a molecular diagnostic test for neurofibromatosis type 1

Expert review of molecular diagnostics, 2011-09, Vol.11 (7), p.671-673

2011

Volltextzugriff (PDF)

Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy

Genetic testing and molecular biomarkers, 2011-09, Vol.15 (9), p.587

2011

Volltextzugriff (PDF)

RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas

Neurogenetics, 2012-08, Vol.13 (3), p.267-274

2012

Volltextzugriff (PDF)

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Human mutation, 2020-01, Vol.41 (1), p.299-315

2020

Volltextzugriff (PDF)

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

Genetics in medicine, 2019-04, Vol.21 (4), p.867-876

2019

Volltextzugriff (PDF)

Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

Journal of medical genetics, 2022-10, Vol.59 (10), p.1017

2022

Volltextzugriff (PDF)

Characterisation of SMN hybrid genes in Spanish SMA patients : de novo, homozygous and compound heterozygous cases

Human genetics, 2001-03, Vol.108 (3), p.222-229

2001

Volltextzugriff (PDF)

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Clinical genetics, 2022-05, Vol.101 (5-6), p.481-493

2022

Volltextzugriff (PDF)

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

The Journal of molecular diagnostics : JMD, 2011-03, Vol.13 (2), p.113-122

2011

Volltextzugriff (PDF)

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Human mutation, 2020-01, Vol.41 (1), p.299-315

2020

Volltextzugriff (PDF)

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

Neuromuscular disorders : NMD, 2011-06, Vol.21 (6), p.413-419

2011

Volltextzugriff (PDF)

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

American journal of human genetics, 2018-01, Vol.102 (1), p.69-87

2018

Volltextzugriff (PDF)

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

Genetics in medicine, 2019-03, Vol.21 (3), p.764-765

2019

Volltextzugriff (PDF)

Identification of de novo deletions at the NF1 gene : no preferential paternal origin and phenotypic analysis of patients

Human genetics, 1997-06, Vol.99 (6), p.720-726

1997

Volltextzugriff (PDF)

The c.859G>C variant in the SMN2 gene is associated with both type II and III SMA and originates from a common ancestor

Journal of medical genetics, 2010-06, Vol.47 (9)

2010

Volltextzugriff (PDF)

Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations

Human genetics, 2002-03, Vol.110 (3), p.257-263

2002

Volltextzugriff (PDF)

Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling

Journal of medical genetics, 1996-07, Vol.33 (7), p.590-593

1996

Volltextzugriff (PDF)

Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies of cBCD541 and SMA Phenotype

Human molecular genetics, 1996-02, Vol.5 (2), p.257-263

1996

Volltextzugriff (PDF)

Menü

Weitere Dienste

Einstellungen

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss

Progress and challenges in developing a molecular diagnostic test for neurofibromatosis type 1

Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy

RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

Characterisation of SMN hybrid genes in Spanish SMA patients : de novo, homozygous and compound heterozygous cases

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

Identification of de novo deletions at the NF1 gene : no preferential paternal origin and phenotypic analysis of patients

The c.859G>C variant in the SMN2 gene is associated with both type II and III SMA and originates from a common ancestor

Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations

Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling

Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies of cBCD541 and SMA Phenotype

Suchergebnisse filtern