Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome.

RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.

Paulina Carmona-Mora
Cesar P Canales
Lei Cao
Irene C Perez
Anand K Srivastava
Juan I Young
Katherina Walz

Smith-Magenis Syndrome (SMS) is a complex genomic disorder mostly caused by the haploinsufficiency o...

Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.

Terray, A
Slembrouck, A
Nanteau, C
Chondroyer, C
Zeitz, C
Sahel, J-A
Audo, I
Reichman, S
Goureau, O

October 2017

A human iPSC line was generated from fibroblasts of a patient affected with autosomal dominant Retin...

Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON)

Peron C.
Mauceri R.
Cabassi T.
Segnali A.
Maresca A.
Iannielli A.
Rizzo A.
Sciacca F. L.
Broccoli V.
Carelli V.
Tiranti V.

January 2020

Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited disorder caused by homoplasmic ...

Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome

Altieri, Filomena
Turco, ELISA MARIA
Vinci, Ersilia
Torres, Barbara
Ferrari, Daniela
DE JACO, Antonella
Mazzoccoli, Gianluigi
Lamorte, Giuseppe
Nardone, Annamaria
Della Monica, Matteo
Bernardini, Laura
Luigi Vescovi, Angelo
Rosati, Jessica Diana

January 2018

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, beh...

IDENTIFICATION OF LOCI CONTRIBUTING TO THE SMITH-MAGENIS SYNDROME-LIKE PHENOTYPE AND MOLECULAR EVALUATION OF THE RETINOIC ACID INDUCED 1 GENE

Williams, Stephen

April 2010

Smith-Magenis syndrome (SMS) is a multiple congenital abnormalities intellectual disability syndrome...

RAI1 gene mutations: mechanisms of Smith–Magenis Syndrome

Falco M
Amabile S
Acquaviva F

November 2017

Mariateresa Falco,1,* Sonia Amabile,1,* Fabio Acquaviva2 1Department of Molecular Medicine and Medic...

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

Dubourg, C.
Bonnet-Brilhault, Frédérique
Toutain, A.
Mignot, C.
Jacquette, A.
Dieux, A.
Gérard, M.
Beaumont-Epinette, M.-P.
Julia, S.
Isidor, B.
Rossi, M.
Odent, S.
Bendavid, C.
Barthélémy, C.
Verloes, A.
David, V.

January 2014

International audienceSmith-Magenis syndrome (SMS) is an intellectual disability syndrome with sleep...

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Loviglio, M.N.
Beck, C.R.
White, J.J.
Leleu, M.
Harel, T.
Guex, N.
Niknejad, A.
Bi, W.
Chen, E.S.
Crespo, I.
Yan, J.
Charng, W.L.
Gu, S.
Fang, P.
Coban-Akdemir, Z.
Shaw, C.A.
Jhangiani, S.N.
Muzny, D.M.
Gibbs, R.A.
Rougemont, J.
Xenarios, I.
Lupski, J.R.
Reymond, A.

January 2016

Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resu...

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

Thierry Vilboux
Carla Ciccone
Jan K. Blancato
Gerald F. Cox
Charu Deshp
Wendy J
William A. Gahl
Ann C. M. Smith
Marjan Huizing

August 2016

Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder characterized by multiple congeni...

Molecular Characterization of the Human RAI1 Promoter

Salzberg, Rose Irene

April 2009

Smith-Magenis syndrome (SMS) is a type of mental retardation disorder associated with a deletion of ...

Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome

Altieri F.
D'ANZI, ANGELA
Martello F.
Tardivo S.
Spasari I.
Ferrari D.
Bernardini L.
Lamorte G.
Mazzoccoli G.
Valente E. M.
Vescovi A. L.
Rosati J.

January 2019

Joubert syndrome (JS) is an autosomal recessive neurodevelopmental disorder, characterized by congen...

RAI1 intragenic deletion and concomitant overexpression in a syndromic patient: Smith-Magenis or Potocki-Lupski syndrome?

A. Sironi
I. Bestetti
C. Boninsegna
M. Masciadri
S. Russo
C. Pantaleoni
S. D&apos
L. Larizza
P. Finelli

June 2018

Smith-Magenis Syndrome (SMS) [MIM:182290] is a genomic disorder caused by RAI1 gene haploinsufficien...

HAPLOINSUFFICIENCY OF RAI1 AND ITS EFFECT ON BDNF EXPRESSION

Kim, Sun

December 2010

Smith-Magenis Syndrome (SMS) [OMIM, #182290] is a congenital anomaly and mental retardation (MCA/MR)...

Characterization of the Retinoic Acid Induced 1 Gene in Humans and Mice

Girirajan, Santhosh

January 2008

The retinoic acid induced 1 (RAI1) gene maps within the Smith-Magenis syndrome (SMS) region on chrom...

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

Truong, Hao T.
Dudding, Tracy
Blanchard, Christopher L.
Elsea, Sarah H.

January 2010

Smith-Magenis syndrome (SMS) is a complex syndrome involving intellectual disabilities, sleep distur...

RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.

Paulina Carmona-Mora
Cesar P Canales
Lei Cao
Irene C Perez
Anand K Srivastava
Juan I Young
Katherina Walz

Smith-Magenis Syndrome (SMS) is a complex genomic disorder mostly caused by the haploinsufficiency o...

Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.

Terray, A
Slembrouck, A
Nanteau, C
Chondroyer, C
Zeitz, C
Sahel, J-A
Audo, I
Reichman, S
Goureau, O

October 2017

A human iPSC line was generated from fibroblasts of a patient affected with autosomal dominant Retin...

Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON)

Peron C.
Mauceri R.
Cabassi T.
Segnali A.
Maresca A.
Iannielli A.
Rizzo A.
Sciacca F. L.
Broccoli V.
Carelli V.
Tiranti V.

January 2020

Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited disorder caused by homoplasmic ...

Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome

Altieri, Filomena
Turco, ELISA MARIA
Vinci, Ersilia
Torres, Barbara
Ferrari, Daniela
DE JACO, Antonella
Mazzoccoli, Gianluigi
Lamorte, Giuseppe
Nardone, Annamaria
Della Monica, Matteo
Bernardini, Laura
Luigi Vescovi, Angelo
Rosati, Jessica Diana

January 2018

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, beh...

IDENTIFICATION OF LOCI CONTRIBUTING TO THE SMITH-MAGENIS SYNDROME-LIKE PHENOTYPE AND MOLECULAR EVALUATION OF THE RETINOIC ACID INDUCED 1 GENE

Williams, Stephen

April 2010

Smith-Magenis syndrome (SMS) is a multiple congenital abnormalities intellectual disability syndrome...

RAI1 gene mutations: mechanisms of Smith–Magenis Syndrome

Falco M
Amabile S
Acquaviva F

November 2017

Mariateresa Falco,1,* Sonia Amabile,1,* Fabio Acquaviva2 1Department of Molecular Medicine and Medic...

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

Dubourg, C.
Bonnet-Brilhault, Frédérique
Toutain, A.
Mignot, C.
Jacquette, A.
Dieux, A.
Gérard, M.
Beaumont-Epinette, M.-P.
Julia, S.
Isidor, B.
Rossi, M.
Odent, S.
Bendavid, C.
Barthélémy, C.
Verloes, A.
David, V.

January 2014

International audienceSmith-Magenis syndrome (SMS) is an intellectual disability syndrome with sleep...

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Loviglio, M.N.
Beck, C.R.
White, J.J.
Leleu, M.
Harel, T.
Guex, N.
Niknejad, A.
Bi, W.
Chen, E.S.
Crespo, I.
Yan, J.
Charng, W.L.
Gu, S.
Fang, P.
Coban-Akdemir, Z.
Shaw, C.A.
Jhangiani, S.N.
Muzny, D.M.
Gibbs, R.A.
Rougemont, J.
Xenarios, I.
Lupski, J.R.
Reymond, A.

January 2016

Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resu...

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

Thierry Vilboux
Carla Ciccone
Jan K. Blancato
Gerald F. Cox
Charu Deshp
Wendy J
William A. Gahl
Ann C. M. Smith
Marjan Huizing

August 2016

Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder characterized by multiple congeni...

Molecular Characterization of the Human RAI1 Promoter

Salzberg, Rose Irene

April 2009

Smith-Magenis syndrome (SMS) is a type of mental retardation disorder associated with a deletion of ...

Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome

Altieri F.
D'ANZI, ANGELA
Martello F.
Tardivo S.
Spasari I.
Ferrari D.
Bernardini L.
Lamorte G.
Mazzoccoli G.
Valente E. M.
Vescovi A. L.
Rosati J.

January 2019

Joubert syndrome (JS) is an autosomal recessive neurodevelopmental disorder, characterized by congen...

RAI1 intragenic deletion and concomitant overexpression in a syndromic patient: Smith-Magenis or Potocki-Lupski syndrome?

A. Sironi
I. Bestetti
C. Boninsegna
M. Masciadri
S. Russo
C. Pantaleoni
S. D&apos
L. Larizza
P. Finelli

June 2018

Smith-Magenis Syndrome (SMS) [MIM:182290] is a genomic disorder caused by RAI1 gene haploinsufficien...

HAPLOINSUFFICIENCY OF RAI1 AND ITS EFFECT ON BDNF EXPRESSION

Kim, Sun

December 2010

Smith-Magenis Syndrome (SMS) [OMIM, #182290] is a congenital anomaly and mental retardation (MCA/MR)...

Characterization of the Retinoic Acid Induced 1 Gene in Humans and Mice

Girirajan, Santhosh

January 2008

The retinoic acid induced 1 (RAI1) gene maps within the Smith-Magenis syndrome (SMS) region on chrom...

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

Truong, Hao T.
Dudding, Tracy
Blanchard, Christopher L.
Elsea, Sarah H.

January 2010

Smith-Magenis syndrome (SMS) is a complex syndrome involving intellectual disabilities, sleep distur...

RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.

Paulina Carmona-Mora
Cesar P Canales
Lei Cao
Irene C Perez
Anand K Srivastava
Juan I Young
Katherina Walz

Smith-Magenis Syndrome (SMS) is a complex genomic disorder mostly caused by the haploinsufficiency o...

Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.

Terray, A
Slembrouck, A
Nanteau, C
Chondroyer, C
Zeitz, C
Sahel, J-A
Audo, I
Reichman, S
Goureau, O

October 2017

A human iPSC line was generated from fibroblasts of a patient affected with autosomal dominant Retin...

Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON)

Peron C.
Mauceri R.
Cabassi T.
Segnali A.
Maresca A.
Iannielli A.
Rizzo A.
Sciacca F. L.
Broccoli V.
Carelli V.
Tiranti V.

January 2020

Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited disorder caused by homoplasmic ...

Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome.

Abstract

Extracted data

Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome.

Abstract

Extracted data

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