Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Janssen, Nicole
Arts, Cornelia

January 2015

The CHARGE syndrome is a multiple congenital malformation syndrome occurring in 6-7 per 100,000 live...

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome

MICHELUCCI A
GHIRRI P
IACOPETTI P
CONIDI ME
FOGLI A
BALDINOTTI F
LUNARDI S
FORLI F
MOSCUZZA F
BERRETTINI S
BOLDRINI A
SIMI P
PELLEGRINI S

January 2010

CHARGE syndrome is an autosomal dominant disorder characterized by features represented in its acron...

Korea

Ann Lab Med

August 2016

CHARGE syndrome MIM #214800 is an autosomal dominant syndrome involving multiple congenital malforma...

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Vissers, Lisenka E L M
van Ravenswaaij, Conny M A
Admiraal, Ronald
Hurst, Jane A
de Vries, Bert B A
Janssen, Irene M
van der Vliet, Walter A
Huys, Erik H L P G
de Jong, Pieter J
Hamel, Ben C J
Schoenmakers, Eric F P M
Brunner, Han G
Veltman, Joris A
van Kessel, Ad Geurts

September 2004

CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom f...

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Vissers, L.E.L.M.
Ravenswaaij-Arts, C.M.A. van
Admiraal, R.J.C.
Hurst, J.A.
Vries, L.B.A. de
Janssen, I.M.
Vliet, W.A. van der
Huys, E.
Jong, P.J. de
Hamel, B.C.J.
Schoenmakers, E.F.P.M.
Brunner, H.G.
Veltman, J.A.
Geurts van Kessel, A.H.M.

January 2004

CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom f...

Identification of a novel mutation in the gene in a patient with CHARGE syndrome

Yeonkyung Kim
Ho-Seok Lee
Jung-Seok Yu
Kangmo Ahn
Chang-Seok Ki
Jihyun Kim

January 2014

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical ...

Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome

Yeonkyung Kim
Ho-seok Lee
Jung-seok Yu
Kangmo Ahn
Chang-seok Ki
Jihyun Kim

January 2012

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical ...

1 CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Jongmans Mcj
Admiraal Rj
Van Der Donk Kp
Vissers Lelm
Baas Af
Kapusta L
Van Hagen Jm
Donnai D
De Ravel Tj
Veltman Ja
Geurts Van Kessel A
De Vries
Brunner Hg
Hoefsloot Lh
Van Ravenswaaij Cma
Departments Of Human Genetics
Children&apos
C. Van Ravenswaaij

September 2016

Background: CHARGE syndrome is a non-random clustering of congenital anomalies. The CHD7 gene on chr...

Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.

Bozkaya, Giray O.
Ulgenalp, A.
Aksel, O.
Randa, C.
Ataman, E.
Cura, Onur D.
Gursoy, SEMRA

December 2015

The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disea...

Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome

복진웅
최재영

January 2013

CHARGE syndrome is an autosomal dominant congenital disorder known to be caused by the haploinsuffic...

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

Bergman, Jorieke E. H.
de Wijs, Ilse
Jongmans, Marjolijn C. J.
Admiraal, Ronald J.
Hoefsloot, Lies H.
van Ravenswaaij-Arts, Conny M. A.

January 2008

CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in the CHD7 gene. Muta...

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.

Bergman, J.E.
Wijs, I.J. de
Jongmans, M.C.J.
Admiraal, R.J.C.
Hoefsloot, L.H.
Ravenswaaij-Arts, C.M.A. van

January 2008

CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in the CHD7 gene. Muta...

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

Wincent, J
Holmberg, E
Stromland, K
Soller, Maria
Mirzaei, L
Djureinovic, T
Robinson, K L
Anderlid, B M
Schoumans, J

January 2008

CHARGE syndrome is a disorder characterized by Coloboma, Heart defect, Atresia choanae, Retarded gro...

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

Lalani, Seema R.
Safiullah, Arsalan M.
Fernbach, Susan D.
Harutyunyan, Karine G.
Thaller, Christina
Peterson, Leif E.
McPherson, John D.
Gibbs, Richard A.
White, Lisa D.
Hefner, Margaret
Davenport, Sandra L.H.
Graham, John M.
Bacino, Carlos A.
Glass, Nancy L.
Towbin, Jeffrey A.
Craigen, William J.
Neish, Steven R.
Lin, Angela E.
Belmont, John W.

February 2006

CHARGE syndrome is a well-established multiple-malformation syndrome with distinctive consensus diag...

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

Jongmans, M.C.J.
Admiraal, R.J.C.
Donk, K.P. van der
Vissers, L.E.L.M.
Baas, A.
Kapusta, L.
Hagen, J.M. van
Donnai, D.
Ravel, T.J. de
Veltman, J.A.
Geurts van Kessel, A.H.M.
Vries, L.B.A. de
Brunner, H.G.
Hoefsloot, L.H.
Ravenswaaij-Arts, C.M.A. van

January 2006

BACKGROUND: CHARGE syndrome is a non-random clustering of congenital anomalies including coloboma, h...

CHARGE Syndrome

Janssen, Nicole
Arts, Cornelia

January 2015

The CHARGE syndrome is a multiple congenital malformation syndrome occurring in 6-7 per 100,000 live...

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome

MICHELUCCI A
GHIRRI P
IACOPETTI P
CONIDI ME
FOGLI A
BALDINOTTI F
LUNARDI S
FORLI F
MOSCUZZA F
BERRETTINI S
BOLDRINI A
SIMI P
PELLEGRINI S

January 2010

CHARGE syndrome is an autosomal dominant disorder characterized by features represented in its acron...

Korea

Ann Lab Med

August 2016

CHARGE syndrome MIM #214800 is an autosomal dominant syndrome involving multiple congenital malforma...

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Vissers, Lisenka E L M
van Ravenswaaij, Conny M A
Admiraal, Ronald
Hurst, Jane A
de Vries, Bert B A
Janssen, Irene M
van der Vliet, Walter A
Huys, Erik H L P G
de Jong, Pieter J
Hamel, Ben C J
Schoenmakers, Eric F P M
Brunner, Han G
Veltman, Joris A
van Kessel, Ad Geurts

September 2004

CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom f...

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Vissers, L.E.L.M.
Ravenswaaij-Arts, C.M.A. van
Admiraal, R.J.C.
Hurst, J.A.
Vries, L.B.A. de
Janssen, I.M.
Vliet, W.A. van der
Huys, E.
Jong, P.J. de
Hamel, B.C.J.
Schoenmakers, E.F.P.M.
Brunner, H.G.
Veltman, J.A.
Geurts van Kessel, A.H.M.

January 2004

CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom f...

Identification of a novel mutation in the gene in a patient with CHARGE syndrome

Yeonkyung Kim
Ho-Seok Lee
Jung-Seok Yu
Kangmo Ahn
Chang-Seok Ki
Jihyun Kim

January 2014

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical ...

Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome

Yeonkyung Kim
Ho-seok Lee
Jung-seok Yu
Kangmo Ahn
Chang-seok Ki
Jihyun Kim

January 2012

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical ...

1 CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Jongmans Mcj
Admiraal Rj
Van Der Donk Kp
Vissers Lelm
Baas Af
Kapusta L
Van Hagen Jm
Donnai D
De Ravel Tj
Veltman Ja
Geurts Van Kessel A
De Vries
Brunner Hg
Hoefsloot Lh
Van Ravenswaaij Cma
Departments Of Human Genetics
Children&apos
C. Van Ravenswaaij

September 2016

Background: CHARGE syndrome is a non-random clustering of congenital anomalies. The CHD7 gene on chr...

Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.

Bozkaya, Giray O.
Ulgenalp, A.
Aksel, O.
Randa, C.
Ataman, E.
Cura, Onur D.
Gursoy, SEMRA

December 2015

The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disea...

Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome

복진웅
최재영

January 2013

CHARGE syndrome is an autosomal dominant congenital disorder known to be caused by the haploinsuffic...

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

Bergman, Jorieke E. H.
de Wijs, Ilse
Jongmans, Marjolijn C. J.
Admiraal, Ronald J.
Hoefsloot, Lies H.
van Ravenswaaij-Arts, Conny M. A.

January 2008

CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in the CHD7 gene. Muta...

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.

Bergman, J.E.
Wijs, I.J. de
Jongmans, M.C.J.
Admiraal, R.J.C.
Hoefsloot, L.H.
Ravenswaaij-Arts, C.M.A. van

January 2008

CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in the CHD7 gene. Muta...

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

Wincent, J
Holmberg, E
Stromland, K
Soller, Maria
Mirzaei, L
Djureinovic, T
Robinson, K L
Anderlid, B M
Schoumans, J

January 2008

CHARGE syndrome is a disorder characterized by Coloboma, Heart defect, Atresia choanae, Retarded gro...

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

Lalani, Seema R.
Safiullah, Arsalan M.
Fernbach, Susan D.
Harutyunyan, Karine G.
Thaller, Christina
Peterson, Leif E.
McPherson, John D.
Gibbs, Richard A.
White, Lisa D.
Hefner, Margaret
Davenport, Sandra L.H.
Graham, John M.
Bacino, Carlos A.
Glass, Nancy L.
Towbin, Jeffrey A.
Craigen, William J.
Neish, Steven R.
Lin, Angela E.
Belmont, John W.

February 2006

CHARGE syndrome is a well-established multiple-malformation syndrome with distinctive consensus diag...

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

Jongmans, M.C.J.
Admiraal, R.J.C.
Donk, K.P. van der
Vissers, L.E.L.M.
Baas, A.
Kapusta, L.
Hagen, J.M. van
Donnai, D.
Ravel, T.J. de
Veltman, J.A.
Geurts van Kessel, A.H.M.
Vries, L.B.A. de
Brunner, H.G.
Hoefsloot, L.H.
Ravenswaaij-Arts, C.M.A. van

January 2006

BACKGROUND: CHARGE syndrome is a non-random clustering of congenital anomalies including coloboma, h...

CHARGE Syndrome

Janssen, Nicole
Arts, Cornelia

January 2015

The CHARGE syndrome is a multiple congenital malformation syndrome occurring in 6-7 per 100,000 live...

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome

MICHELUCCI A
GHIRRI P
IACOPETTI P
CONIDI ME
FOGLI A
BALDINOTTI F
LUNARDI S
FORLI F
MOSCUZZA F
BERRETTINI S
BOLDRINI A
SIMI P
PELLEGRINI S

January 2010

CHARGE syndrome is an autosomal dominant disorder characterized by features represented in its acron...

Korea

Ann Lab Med

August 2016

CHARGE syndrome MIM #214800 is an autosomal dominant syndrome involving multiple congenital malforma...

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Abstract

Extracted data

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Abstract

Extracted data

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