(Q71981831)

English

Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2–q13.3): Molecular genetics and clinical experience in 109 cases

scientific article published on 01 May 1995

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7644431%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7644431%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2–q13.3): Molecular genetics and clinical experience in 109 cases (English)

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

spinal muscular atrophy

1 reference

based on heuristic

inferred from title

muscular atrophy

1 reference

based on heuristic

inferred from title

human chromosome 5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7644431

10 July 2024

Brunhilde Wirth

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B. Wirth

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7644431

10 July 2024

author name string

S. Rudnik-Schöneborn

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7644431

10 July 2024

E. Hahnen

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7644431

10 July 2024

D. Röhrig

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7644431

10 July 2024

K. Zerres

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7644431

10 July 2024

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7644431

10 July 2024

publication date

1 May 1995

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7644431%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpd.1970150503

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/pd.1970150503

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Prenatal Diagnosis

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7644431%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

15

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7644431%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

5

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Europe PubMed Central

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22 October 2019

407-417

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7644431%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes

1 reference

5 June 2022

https://opencitations.net/index/coci/api/v1/citations/10.1136/JMG.29.3.171

Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: A variant of infantile spinal muscular atrophy

1

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome

2

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis

3

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

4

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.

5

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy

6

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

7

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers

8

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I.

9

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Linkage and apparent heterogeneity in proximal spinal muscular atrophies

10

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Apparent SMA I unlinked to 5q.

11

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Prenatal prediction of spinal muscular atrophy

13

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Molecular diagnosis of trisomy 18 using DNA recovered from paraffin embedded tissues and possible implications for genetic counselling

15

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Analysis of limb reduction defects in babies exposed to chorionic villus sampling

16

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.

17

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

18

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms

20

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers

21

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region

22

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13

23

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Genetic heterogeneity in spinal muscular atrophy: a linkage analysis-based assessment

25

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Two microsatellite polymorphisms at the D5S39 locus

26

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

27

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

28

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Refined Linkage Map of Chromosome 5 in the Region of the Spinal Muscular Atrophy Gene

30

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

31

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

A simple salting out procedure for extracting DNA from human nucleated cells

32

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Spinal muscular atrophy type I combined with atrial septal defect in three sibs.

33

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA)

35

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at D5S681

36

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Limb defects and gestational age at chorionic villus sampling

38

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Newborn screening by DNA analysis of dried blood spots

40

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications

41

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration

43

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Neonatal spinal muscular atrophy presenting as respiratory distress: a clinical variant

45

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B

48

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

High resolution physical map of the region surrounding the spinal muscular atrophy gene

49

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies

50

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

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.

51

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.

52

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

53

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

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

54

1 reference

10.1002/PD.1970150503

https://api.crossref.org/works/10.1002/PD.1970150503

10 July 2024

Identifiers

10.1002/PD.1970150503

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7644431%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7644431%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

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