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line mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet 74:761–764

Hypoventilation Syndrome Nat Genet
Brunet Jf
Sprung Disease Nat Genet
Neurocristopathy Pediatr Radiol
Blastoma J Clin Oncol

Publication date

August 2015

Abstract

expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital centra

Extracted data

Related items

Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma

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Zhong, Q
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Bhatnagar, N
Sharma, B
Zhang, X
Luther, W
Haynes, LP
Burgoyne, RD
Vidal, M
Volchenboum, S
Hill, DE
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June 2014

Heterozygous germline mutations in PHOX2B, a transcriptional regulator of sympathetic neuronal diffe...

Patched 2, located in 1p32-34, is not mutated in high stage neuroblastoma tumors

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Paired Like homeobox 2B (PHOX2B) is a gene crucial for the differentiation of the neural lineages of...

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attributed to mutations in the paired-like homeobox 2B gene, PHOX2B. Two types of mutations have bee...

Detection of sporadic PHOX2B gene mutations and association of tumor behavior in neuroblastomas

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Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

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Neuroblastoma is a pediatric tumor that is thought to arise from autonomic precursors in the neural ...

PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome

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Laudier, Béatrice
Svensson, Pär-Johan
Uhrig, Sabine
Cole, Trevor
Munnich, Arnold
Gaultier, Claude
Lyonnet, Stanislas
Amiel, Jeanne

March 2005

The Phox2b gene is necessary for autonomic nervous-system development. Phox2b−/− mice die in utero w...

Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma

Wang, W
Zhong, Q
Teng, L
Bhatnagar, N
Sharma, B
Zhang, X
Luther, W
Haynes, LP
Burgoyne, RD
Vidal, M
Volchenboum, S
Hill, DE
George, RE

June 2014

Heterozygous germline mutations in PHOX2B, a transcriptional regulator of sympathetic neuronal diffe...

Patched 2, located in 1p32-34, is not mutated in high stage neuroblastoma tumors

Jögi, Annika
Abel, F
Sjoberg, R M
Toftgard, R
Zaphiropoulos, P G
Påhlman, Sven
Martinsson, T
Axelson, Håkan

January 2000

Neuroblastoma is a childhood malignancy originating from cells of the sympathetic nervous system, ex...

Contributions of PHOX2B in the pathogenesis of Hirschsprung disease.

Raquel María Fernández
Yves Mathieu
Berta Luzón-Toro
Rocío Núñez-Torres
Antonio González-Meneses
Guillermo Antiñolo
Jeanne Amiel
Salud Borrego

Hirschsprung disease (HSCR) is a congenital malformation of the hindgut resulting from a disruption ...

Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma

Trochet, Delphine
Bourdeaut, Franck
Janoueix-Lerosey, Isabelle
Deville, Anne
de Pontual, Loïc
Schleiermacher, Gudrun
Coze, Carole
Philip, Nicole
Frébourg, Thierry
Munnich, Arnold
Lyonnet, Stanislas
Delattre, Olivier
Amiel, Jeanne

April 2004

Neuroblastoma (NB) is a frequent pediatric tumor for which recurrent somatic rearrangements are know...

PHOX2B mutations and genetic predisposition to neuroblastoma

Perri P.
Bachetti T.
Longo L.
Matera I.
Seri M.
Tonini G. P.
Ceccherini I.

January 2005

Neuroblastoma (NB) is a childhood malignancy originating from neural crest cells, which seldom occur...

PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.

McConville, C
Reid, S
Baskcomb, L
Douglas, J
Rahman, N

June 2006

Neuroblastoma (NB) is an embryonal tumor originating from neural crest cells and is one of the most ...

PHOX2B mutations and genetic predisposition to neuroblastoma.

Perri P
Bachetti T
Longo L
Matera I
Tonini GP
Ceccherini I.
SERI, MARCO

January 2005

Neuroblastoma (NB) is a childhood malignancy originating from neural crest cells, which seldom occur...

Analysis of sporadic neuroblastic tumors reveals a novel PHOX2B mutation in neuroblastoma

Altungöz, Oğuz
Caglar, Hasan Onur
Tumer, Sait
Olgun, Hatice Nur

June 2018

Germline mutations of PHOX2B have been associated with neurocristopathies predisposing to neuroblast...

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.

de Pontual, Loïc
Trochet, Delphine
Bourdeaut, Franck
Thomas, Sophie
Etchevers, Heather, C.
Chompret, Agnes
Minard, Véronique
Valteau, Dominique
Brugières, Laurence
Munnich, Arnold
Delattre, Olivier
Lyonnet, Stanislas
Janoueix-Lerosey, Isabelle
Amiel, Jeanne

November 2007

International audienceNeuroblastoma (NB), an embryonic tumour originating from neural crest cells, i...

Causative and common PHOX2B variants define a broad phenotypic spectrum

Bachetti T
CECCHERINI, ISABELLA

January 2019

Paired Like homeobox 2B (PHOX2B) is a gene crucial for the differentiation of the neural lineages of...

November 2015

attributed to mutations in the paired-like homeobox 2B gene, PHOX2B. Two types of mutations have bee...

Detection of sporadic PHOX2B gene mutations and association of tumor behavior in neuroblastomas

ÇAĞLAR, Hasan Onur

January 2011

Nöroblastom (NB) genellikle sporadik olarak ortaya çıkan yaygın bir çocukluk çağı tümörüdür. Klinik ...

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

BACHETTI T
MATERA I
BORGHINI S
DI DUCA M
RAVAZZOLO, ROBERTO
CECCHERINI I.

January 2005

Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy characterized by absen...

Neuroblastoma Phox2b variants stimulate proliferation and dedifferentiation of immature sympathetic neurons

Reiff, T.
Tsarovina, K.
Majdazari, A.
Schmidt, M.
del Pino, I.
Rohrer, H.

January 2010

Neuroblastoma is a pediatric tumor that is thought to arise from autonomic precursors in the neural ...

PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome

Trochet, Delphine
O'Brien, Louise M.
Gozal, David
Trang, Ha
Nordenskjöld, Agneta
Laudier, Béatrice
Svensson, Pär-Johan
Uhrig, Sabine
Cole, Trevor
Munnich, Arnold
Gaultier, Claude
Lyonnet, Stanislas
Amiel, Jeanne

March 2005

The Phox2b gene is necessary for autonomic nervous-system development. Phox2b−/− mice die in utero w...

Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma

Wang, W
Zhong, Q
Teng, L
Bhatnagar, N
Sharma, B
Zhang, X
Luther, W
Haynes, LP
Burgoyne, RD
Vidal, M
Volchenboum, S
Hill, DE
George, RE

June 2014

Heterozygous germline mutations in PHOX2B, a transcriptional regulator of sympathetic neuronal diffe...

Patched 2, located in 1p32-34, is not mutated in high stage neuroblastoma tumors

Jögi, Annika
Abel, F
Sjoberg, R M
Toftgard, R
Zaphiropoulos, P G
Påhlman, Sven
Martinsson, T
Axelson, Håkan

January 2000

Neuroblastoma is a childhood malignancy originating from cells of the sympathetic nervous system, ex...

Contributions of PHOX2B in the pathogenesis of Hirschsprung disease.

Raquel María Fernández
Yves Mathieu
Berta Luzón-Toro
Rocío Núñez-Torres
Antonio González-Meneses
Guillermo Antiñolo
Jeanne Amiel
Salud Borrego

Hirschsprung disease (HSCR) is a congenital malformation of the hindgut resulting from a disruption ...