(Q52938896)

9 May 2018

title

Childhood overgrowth in patients with common NF1 microdeletions. (English)

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9 May 2018

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9 May 2018

Hildegard Kehrer-Sawatzki

object named as

Hildegard Kehrer-Sawatzki

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9 May 2018

Denise Horn

object named as

Denise Horn

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9 May 2018

author name string

Miriam Spiegel

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9 May 2018

Elke Windt

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9 May 2018

Annegret Buske

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9 May 2018

Beate Albrecht

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9 May 2018

Eva-Christina Prott

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9 May 2018

Eva Seemanová

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9 May 2018

Joerg Seidel

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9 May 2018

Thorsten Rosenbaum

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9 May 2018

Dieter Jenne

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9 May 2018

Sigrid Tinschert

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9 May 2018

publication date

1 July 2005

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9 May 2018

European Journal of Human Genetics

published in

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9 May 2018

volume

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9 May 2018

issue

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9 May 2018

page(s)

883-888

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9 May 2018

Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Growth, puberty, and endocrine functions in patients with sporadic or familial neurofibromatosis type 1: a longitudinal study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Neurofibromatosis type 1 growth charts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Growth in North American white children with neurofibromatosis 1 (NF1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Growth hormone excess in a child with neurofibromatosis type 1 and optic pathway tumor: a patient report

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Gigantism due to growth hormone excess in a boy with optic glioma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Structural anomalies revealed by neuroimaging studies in the brains of patients with neurofibromatosis type 1 and large deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Further delineation of Weaver syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

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

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Do NF1 gene deletions result in a characteristic phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Identification of centaurin-alpha2: a phosphatidylinositide-binding protein present in fat, heart and skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Identification of gene structure and subcellular localization of human centaurin alpha 2, and p42IP4, a family of two highly homologous, Ins 1,3,4,5-P4-/PtdIns 3,4,5-P3-binding, adapter proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

SUZ12 is required for both the histone methyltransferase activity and the silencing function of the EED-EZH2 complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Suz12 is essential for mouse development and for EZH2 histone methyltransferase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

7 January 2021

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

7 January 2021

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

7 January 2021

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

7 January 2021

Optic gliomata affecting twins with neurofibromatosis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

7 January 2021

Hypothalamic mass and gigantism in neurofibromatosis: treatment with bromocriptine

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

7 January 2021

Optic pathway glioma infiltrating into somatostatinergic pathways in a young boy with gigantism. Case report

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

7 January 2021

Analysis of skull anthropometric measurements in patients with neurofibromatosis type-1.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

7 January 2021

A distinctive facial appearance in neurofibromatosis von Recklinghausen

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

7 January 2021

Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

7 January 2021

Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

7 January 2021

The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201419

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201419

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9 May 2018

1 reference

9 May 2018