(Q51996923)

19 April 2018

title

Do NF1 gene deletions result in a characteristic phenotype? (English)

1 reference

19 April 2018

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Tonsgard JH

1

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19 April 2018

Yelavarthi KK

2

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19 April 2018

Cushner S

3

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19 April 2018

Short MP

4

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19 April 2018

Lindgren V

5

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19 April 2018

publication date

1 November 1997

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19 April 2018

American Journal of Medical Genetics Part A

published in

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19 April 2018

volume

73

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19 April 2018

issue

1

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19 April 2018

page(s)

80-86

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19 April 2018

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

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1 reference

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Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales.

21 January 2018

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cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

21 January 2018

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Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

21 January 2018

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Molecular genetics of neurofibromatosis type 1 (NF1)

21 January 2018

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Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene

21 January 2018

1 reference

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A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay

21 January 2018

1 reference

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Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

21 January 2018

1 reference

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Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

21 January 2018

1 reference

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Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.

21 January 2018

1 reference

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17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one

21 January 2018

1 reference

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Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

21 January 2018

1 reference

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10.1002/(SICI)1096-8628(19971128)73:1<80::AID-AJMG16>3.0.CO;2-N

21 January 2018

Identifiers

DOI

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19 April 2018

1 reference

19 April 2018