Familial gigantism caused by an NSD1 mutation.

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Franco, Luis M
de Ravel, Thomy
Graham, Brett H
Frenkel, Stephanie M
Van Driessche, Jozef
Stankiewicz, Pawel
Lupski, James R
Vermeesch, Joris
Cheung, Sau Wai

February 2010

Genomic rearrangements are an increasingly recognized mechanism of human phenotypic variation and su...

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Franco, Luis M
de Ravel, Thomy
Graham, Brett H
Frenkel, Stephanie M
Van Driessche, Jozef
Stankiewicz, Pawel
Lupski, James R
Vermeesch, Joris
Cheung, Sau Wai

February 2010

Genomic rearrangements are an increasingly recognized mechanism of human phenotypic variation and su...

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

Douglas, Jenny
Hanks, Sandra
Temple, I. Karen
Davies, Sally
Murray, Alexandra
Upadhyaya, Meena
Tomkins, Susan
Hughes, Helen E.
Cole, Trevor R.P.
Rahman, Nazneen

January 2003

Sotos syndrome is a childhood overgrowth syndrome characterized by a distinctive facial appearance, ...

Familial gigantism caused by an NSD1 mutation.

van Haelst, MM
Hoogeboom, JJM
Baujat, G
Brüggenwirth, HT
Van de Laar, I
Coleman, K
Rahman, N
Niermeijer, MF
Drop, SLS
Scambler, PJ

November 2005

A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G --> A,...

A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome

Gianluigi Laccetta
Francesca Moscuzza
Angela Michelucci
Andrea Guzzetta
Sara Lunardi
Francesca Lorenzoni
Paolo Ghirri

November 2017

Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and char...

A novel missense mutation of the NsD1 gene associated with overgrowth in three generations of an Italian family: Case report, differential diagnosis, and review of mutations of NsD1 gene in familial sotos syndrome

Laccetta G.
Moscuzza F.
Michelucci A.
Guzzetta A.
Lunardi S.
Lorenzoni F.
Ghirri P.

January 2017

Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and char...

1 The First Japanese Familial Sotos Syndrome with a Novel Mutation of the NSD1 Gene

Satoshi Tei
Syuichi Tsuneishi
Masafumi Matsuo

January 2006

Sotos syndrome is caused by the haploinsufficiency of the NSD1 gene located in 5q35. More than 70 % ...

ral Orphanet Journal of Rare Diseases ssBioMed Cent Open AcceReview

Sotos Syndrome
Geneviève Baujat

August 2016

Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive gro...

ONLINE MUTATION REPORT Identification of eight novel NSD1 mutations in Sotos

October 2016

otos syndrome or cerebral gigantism (SoS, OMIM #117550) is a well-known disorder characterised by ov...

LETTER TO JMG Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene

J Med Genet

April 2015

Sotos syndrome (SS) or cerebral gigantism (OMIM*117550) is characterised by excessive growth, advanc...

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

M., Cecconi
F., Forzano
D., Milani
S., Cavani
C., Baldo
A., Selicorni
C., Pantaleoni
M., Silengo
Gb, Ferrero
G., Scarano
M., DELLA MONICA
R., Fischetto
Grammatico, Paola
S., Majore
G., Zampino
L., Memo
E., LUCCI CORDISCO
G., Neri
M., Pierluigi
F., DAGNA BRICARELLI
M., Grasso
F., Faravelli

January 2005

Sotos syndrome is characterized by pre- and post-natal overgrowth, typical craniofacial features, ad...

Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

Tatton-Brown, Katrina
Douglas, Jenny
Coleman, Kim
Baujat, Geneviève
Cole, Trevor R.P.
Das, Soma
Horn, Denise
Hughes, Helen E.
Temple, I. Karen
Faravelli, Francesca
Waggoner, Darrel
Türkmen, Seval
Cormier-Daire, Valérie
Irrthum, Alexandre
Rahman, Nazneen

August 2005

We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing NSD...

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

Tatton-Brown, K.
Douglas, J.
Coleman, K.
Baujat, G.
Cole, T.R.
Das, S.
Horn, D.
Hughes, H.E.
Temple, I.K.
Faravelli, F.
Waggoner, D.
Turkmen, S.
Cormier-Daire, V.
Irrthum, A.
Rahman, N.

August 2005

We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing NSD...

Genotype-phenotype correlation in patients suspected of having sotos syndrome.

Boer, L. de
Kant, S.
Karperien, M.
Beers, L. van
Tjon, J.
Vink, G.R.
Tol, D. van
Dauwerse, H.G.
Cessie, S. le
Beemer, F.A.
Burgt, C.J.A.M. van der
Hamel, B.C.J.
Hennekam, R.C.M.
Kuhnle, U.
Mathijssen, I.B.
Veenstra-Knol, H.E.
Stumpel, C.T.
Breuning, M.H.
Wit, J.M.

January 2004

Contains fulltext : 58369.pdf (publisher's version ) (Open Access)BACKGROUND: Dele...

Individuals with NSD1 Aberrations

October 2016

We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing NSD...

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Franco, Luis M
de Ravel, Thomy
Graham, Brett H
Frenkel, Stephanie M
Van Driessche, Jozef
Stankiewicz, Pawel
Lupski, James R
Vermeesch, Joris
Cheung, Sau Wai

February 2010

Genomic rearrangements are an increasingly recognized mechanism of human phenotypic variation and su...

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Franco, Luis M
de Ravel, Thomy
Graham, Brett H
Frenkel, Stephanie M
Van Driessche, Jozef
Stankiewicz, Pawel
Lupski, James R
Vermeesch, Joris
Cheung, Sau Wai

February 2010

Genomic rearrangements are an increasingly recognized mechanism of human phenotypic variation and su...

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

Douglas, Jenny
Hanks, Sandra
Temple, I. Karen
Davies, Sally
Murray, Alexandra
Upadhyaya, Meena
Tomkins, Susan
Hughes, Helen E.
Cole, Trevor R.P.
Rahman, Nazneen

January 2003

Sotos syndrome is a childhood overgrowth syndrome characterized by a distinctive facial appearance, ...

Familial gigantism caused by an NSD1 mutation.

van Haelst, MM
Hoogeboom, JJM
Baujat, G
Brüggenwirth, HT
Van de Laar, I
Coleman, K
Rahman, N
Niermeijer, MF
Drop, SLS
Scambler, PJ

November 2005

A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G --> A,...

A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome

Gianluigi Laccetta
Francesca Moscuzza
Angela Michelucci
Andrea Guzzetta
Sara Lunardi
Francesca Lorenzoni
Paolo Ghirri

November 2017

Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and char...

A novel missense mutation of the NsD1 gene associated with overgrowth in three generations of an Italian family: Case report, differential diagnosis, and review of mutations of NsD1 gene in familial sotos syndrome

Laccetta G.
Moscuzza F.
Michelucci A.
Guzzetta A.
Lunardi S.
Lorenzoni F.
Ghirri P.

January 2017

Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and char...

1 The First Japanese Familial Sotos Syndrome with a Novel Mutation of the NSD1 Gene

Satoshi Tei
Syuichi Tsuneishi
Masafumi Matsuo

January 2006

Sotos syndrome is caused by the haploinsufficiency of the NSD1 gene located in 5q35. More than 70 % ...

ral Orphanet Journal of Rare Diseases ssBioMed Cent Open AcceReview

Sotos Syndrome
Geneviève Baujat

August 2016

Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive gro...

ONLINE MUTATION REPORT Identification of eight novel NSD1 mutations in Sotos

October 2016

otos syndrome or cerebral gigantism (SoS, OMIM #117550) is a well-known disorder characterised by ov...

LETTER TO JMG Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene

J Med Genet

April 2015

Sotos syndrome (SS) or cerebral gigantism (OMIM*117550) is characterised by excessive growth, advanc...

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

M., Cecconi
F., Forzano
D., Milani
S., Cavani
C., Baldo
A., Selicorni
C., Pantaleoni
M., Silengo
Gb, Ferrero
G., Scarano
M., DELLA MONICA
R., Fischetto
Grammatico, Paola
S., Majore
G., Zampino
L., Memo
E., LUCCI CORDISCO
G., Neri
M., Pierluigi
F., DAGNA BRICARELLI
M., Grasso
F., Faravelli

January 2005

Sotos syndrome is characterized by pre- and post-natal overgrowth, typical craniofacial features, ad...

Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

Tatton-Brown, Katrina
Douglas, Jenny
Coleman, Kim
Baujat, Geneviève
Cole, Trevor R.P.
Das, Soma
Horn, Denise
Hughes, Helen E.
Temple, I. Karen
Faravelli, Francesca
Waggoner, Darrel
Türkmen, Seval
Cormier-Daire, Valérie
Irrthum, Alexandre
Rahman, Nazneen

August 2005

We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing NSD...

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

Tatton-Brown, K.
Douglas, J.
Coleman, K.
Baujat, G.
Cole, T.R.
Das, S.
Horn, D.
Hughes, H.E.
Temple, I.K.
Faravelli, F.
Waggoner, D.
Turkmen, S.
Cormier-Daire, V.
Irrthum, A.
Rahman, N.

August 2005

We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing NSD...

Genotype-phenotype correlation in patients suspected of having sotos syndrome.

Boer, L. de
Kant, S.
Karperien, M.
Beers, L. van
Tjon, J.
Vink, G.R.
Tol, D. van
Dauwerse, H.G.
Cessie, S. le
Beemer, F.A.
Burgt, C.J.A.M. van der
Hamel, B.C.J.
Hennekam, R.C.M.
Kuhnle, U.
Mathijssen, I.B.
Veenstra-Knol, H.E.
Stumpel, C.T.
Breuning, M.H.
Wit, J.M.

January 2004

Contains fulltext : 58369.pdf (publisher's version ) (Open Access)BACKGROUND: Dele...

Individuals with NSD1 Aberrations

October 2016

We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing NSD...

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Franco, Luis M
de Ravel, Thomy
Graham, Brett H
Frenkel, Stephanie M
Van Driessche, Jozef
Stankiewicz, Pawel
Lupski, James R
Vermeesch, Joris
Cheung, Sau Wai

February 2010

Genomic rearrangements are an increasingly recognized mechanism of human phenotypic variation and su...

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Franco, Luis M
de Ravel, Thomy
Graham, Brett H
Frenkel, Stephanie M
Van Driessche, Jozef
Stankiewicz, Pawel
Lupski, James R
Vermeesch, Joris
Cheung, Sau Wai

February 2010

Genomic rearrangements are an increasingly recognized mechanism of human phenotypic variation and su...

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

Douglas, Jenny
Hanks, Sandra
Temple, I. Karen
Davies, Sally
Murray, Alexandra
Upadhyaya, Meena
Tomkins, Susan
Hughes, Helen E.
Cole, Trevor R.P.
Rahman, Nazneen

January 2003

Sotos syndrome is a childhood overgrowth syndrome characterized by a distinctive facial appearance, ...

Familial gigantism caused by an NSD1 mutation.

Abstract

Extracted data

Familial gigantism caused by an NSD1 mutation.

Abstract

Extracted data

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