Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification (Q58193608)

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27 December 2019

title

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification (English)

1 reference

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27 December 2019

main subject

spinal muscular atrophy

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2

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27 December 2019

Marta Pace

7

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27 December 2019

Maria Cristina Rosatelli

13

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27 December 2019

Bruno Dallapiccola

15

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14

Antonino Uncini

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27 December 2019

author name string

Oronzo Scarciolla

1

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27 December 2019

Maria Vittoria De Angelis

3

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27 December 2019

Stefania Murru

4

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27 December 2019

Chiara Palka

5

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27 December 2019

Rossella Giuliani

6

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27 December 2019

Antonio Di Muzio

8

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27 December 2019

Isabella Torrente

9

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27 December 2019

Annunziata Morella

10

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27 December 2019

Paola Grammatico

11

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27 December 2019

Manlio Giacanelli

12

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27 December 2019

publication date

22 July 2006

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27 December 2019

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27 December 2019

volume

7

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27 December 2019

issue

4

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page(s)

269-276

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https://scigraph.springernature.com/pub.10.1007/s10048-006-0051-3

27 December 2019

exact match

0 references

cites work

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-006-0051-3

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension

21 January 2018

1 reference

12 December 2020

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

1 reference

12 December 2020

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

1 reference

12 December 2020

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

1 reference

12 December 2020

Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3.

1 reference

12 December 2020

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

1 reference

12 December 2020

Spinal muscular atrophy: molecular genetics and diagnostics.

1 reference

12 December 2020

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

1 reference

12 December 2020

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

1 reference

12 December 2020

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

1 reference

12 December 2020

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.

1 reference

12 December 2020

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

1 reference

12 December 2020

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

12 December 2020

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method

1 reference

12 December 2020

Determination of SMN1 and SMN2 copy number using TaqMan technology

1 reference

12 December 2020

Structure and organization of the human survival motor neurone (SMN) gene

1 reference

12 December 2020

When is a deletion not a deletion? When it is converted

1 reference

12 December 2020

Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families.

1 reference

12 December 2020

Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test.

1 reference

12 December 2020

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

12 December 2020

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

1 reference

12 December 2020

10.1007/S10048-006-0051-3

Identifiers

DOI

1 reference

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27 December 2019

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