Ask
Search
My library
ORKG

ORKG Ask

Our mission is to organize scholarly knowledge and make it accessible to humans and machines.

About

About ORKG Ask
Report issue
Statistics
Contact

Legal

Terms of use
Data protection (sheet)
Imprint
Accessibility
License

Technical

We
open source
System status
Changelog
Frontend: v1.41.0
Backend: v1.13.4

We use cookies to provide a better user experience.

Data Protection

Towards positional cloning of a Cornelia de Lange syndrome gene at 3q26.3

Smith, M.J.

Publication date

January 2000

Abstract

SIGLEAvailable from British Library Document Supply Centre-DSC:DXN032808 / BLDSC - British Library Document Supply CentreGBUnited Kingdo

Extracted data

Related items

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

Krantz, Ian D
McCallum, Jennifer
DeScipio, Cheryl
Kaur, Maninder
Gillis, Lynette A
Yaeger, Dinah
Jukofsky, Lori
Wasserman, Nora
Bottani, Armand
Morris, Colleen A
Nowaczyk, Malgorzata JM
Toriello, Helga
Bamshad, Michael J
Carey, John C
Rappaport, Eric
Kawauchi, Shimako
Lander, Arthur D
Calof, Anne L
Li, Hui-Hua
Devoto, Marcella
Jackson, Laird G

June 2004

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental d...

Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum

Angelo Selicorni
Milena Mariani
Antonella Lettieri
Valentina Massa

July 2021

Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of knowledge i...

Further contributions towards the molecular analysis of NIPBL and SMC1A genes in a cohort of patients with Cornelia de Lange Syndrome

E. Pinto Da Costa
J. Oliveira
J. Silva
R. Santos
Centro De Genética Médica
Dr. Jacinto Magalhães
Smca Mutation

September 2016

Cornelia de Lange Syndrome [CdLS (MIM#122470)] is a rare multisystemic developmental disorder with a...

Positonal cloning of Darier's disease gene

Sakuntabhai, A.

January 1999

SIGLEAvailable from British Library Document Supply Centre-DSC:D206468 / BLDSC - British Library Doc...

Positional cloning of the gene responsible for Dent's disease

Fisher, S.E

January 1995

SIGLEAvailable from British Library Document Supply Centre-DSC:D191013 / BLDSC - British Library Doc...

Cloning of genes in the human major histocompatibility complex class III region by use of novel techniques

Burfoot, M.S

January 1996

SIGLEAvailable from British Library Document Supply Centre-DSC:D191636 / BLDSC - British Library Doc...

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.

Gervasini, C.
Pfundt, R.P.
Castronovo, P.
Russo, S.
Roversi, G.
Masciadri, M.
Milani, D.
Zampino, G.
Selicorni, A.
Schoenmakers, E.F.P.M.
Larizza, L.

January 2008

Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital anomaly/mental retardation syndrome...

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

Nizon, Mathilde
Henry, Marcia
Michot, Caroline
Baumann, Clarisse
Bazin, Anne
Bessieres, Bettina
Blesson, Sophie
Cordier-Alex, Marie-Pierre
David, Albert
Delahaye-Duriez, Andrée
Delezoide, Anne-Lise
Dieux-Coeslier, Anne
Doco-Fenzy, Martine
Faivre, Laurence
Goldenberg, Alice
Layet, Valérie
Loget, Philippe
Marlin, Sandrine
Martinovic, Jelena
Odent, Sylvie
Pasquier, Laurent
Plessis, Ghislaine
Prieur, Fabienne
Putoux, Audrey
Rio, Marlène
Testard, Hervé
Bonnefont, Jean-Paul
Cormier-Daire, Valérie

January 2016

International audienceCornelia de Lange syndrome is a multisystemic developmental disorder mainly re...

The molecular genetics of the myelodysplastic syndromes

Abrahamson, G.M

January 1991

SIGLEAvailable from British Library Document Supply Centre- DSC:D96484 / BLDSC - British Library Doc...

Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome

Oliveira, Jorge
Dias, Cristina
Redeker, Egbert
Costa, Eurico
Silva, João
Lima, Margarida Reis
Den Dunnen, Johan T.
Santos, Rosário

November 2010

The establishment of Locus Specific Databases (LSDB) is a crucial aspect for the Human Genetics fiel...

Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome

Oliveira, J.
Dias, C.
Redeker, E.
Costa, E.
Silva, J.
Lima, M.R.
Dunnen, J.T. den
Santos, R.

November 2010

The establishment of Locus Specific Databases (LSDB) is a crucial aspect for the Human Genetics fiel...

Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family

Kremer, H.
Kuyt, L.P.
Helm, B. van den
Reen, M. van
Leunissen, J.A.M.
Hamel, B.C.J.
Jansen, Cees
Mariman, E.C.M.
Frants, R.R.
Padberg, G.W.A.M.

January 1996

Contains fulltext : 24254___.PDF (publisher's version ) (Open Access

Hidden Mutations in Cornelia de Lange Syndrome : Limitations of Sanger Sequencing in Molecular Diagnostics

D. Braunholz
C. Obieglo
I. Parenti
J. Pozojevic
J. Eckhold
B. Reiz
I. Br&#230
K.S. Wendt
E. Watrin
J. Vodopiutz
H. Rieder
G. Gillessen-Kaesbach
F.J. Kaiser

January 2015

Cornelia de Lange syndrome (CdLS) is a well-characterized developmental disorder. The genetic cause ...

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes

C. Gervasini
P. Castronovo
G. Roversi
M. Masciadri
L. Larizza
R. Pfundt
S. Russo
D. Milani
G. Zampino
A. Selicorni
E. Schoenmakers

January 2008

Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital anomaly/mental retardation syndrom...

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

January 2018

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intel...

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

Krantz, Ian D
McCallum, Jennifer
DeScipio, Cheryl
Kaur, Maninder
Gillis, Lynette A
Yaeger, Dinah
Jukofsky, Lori
Wasserman, Nora
Bottani, Armand
Morris, Colleen A
Nowaczyk, Malgorzata JM
Toriello, Helga
Bamshad, Michael J
Carey, John C
Rappaport, Eric
Kawauchi, Shimako
Lander, Arthur D
Calof, Anne L
Li, Hui-Hua
Devoto, Marcella
Jackson, Laird G

June 2004

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental d...

Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum

Angelo Selicorni
Milena Mariani
Antonella Lettieri
Valentina Massa

July 2021

Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of knowledge i...

Further contributions towards the molecular analysis of NIPBL and SMC1A genes in a cohort of patients with Cornelia de Lange Syndrome

E. Pinto Da Costa
J. Oliveira
J. Silva
R. Santos
Centro De Genética Médica
Dr. Jacinto Magalhães
Smca Mutation

September 2016

Cornelia de Lange Syndrome [CdLS (MIM#122470)] is a rare multisystemic developmental disorder with a...

Positonal cloning of Darier's disease gene

Sakuntabhai, A.

January 1999

SIGLEAvailable from British Library Document Supply Centre-DSC:D206468 / BLDSC - British Library Doc...

Positional cloning of the gene responsible for Dent's disease

Fisher, S.E

January 1995

SIGLEAvailable from British Library Document Supply Centre-DSC:D191013 / BLDSC - British Library Doc...

Cloning of genes in the human major histocompatibility complex class III region by use of novel techniques

Burfoot, M.S

January 1996

SIGLEAvailable from British Library Document Supply Centre-DSC:D191636 / BLDSC - British Library Doc...

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.

Gervasini, C.
Pfundt, R.P.
Castronovo, P.
Russo, S.
Roversi, G.
Masciadri, M.
Milani, D.
Zampino, G.
Selicorni, A.
Schoenmakers, E.F.P.M.
Larizza, L.

January 2008

Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital anomaly/mental retardation syndrome...

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

Nizon, Mathilde
Henry, Marcia
Michot, Caroline
Baumann, Clarisse
Bazin, Anne
Bessieres, Bettina
Blesson, Sophie
Cordier-Alex, Marie-Pierre
David, Albert
Delahaye-Duriez, Andrée
Delezoide, Anne-Lise
Dieux-Coeslier, Anne
Doco-Fenzy, Martine
Faivre, Laurence
Goldenberg, Alice
Layet, Valérie
Loget, Philippe
Marlin, Sandrine
Martinovic, Jelena
Odent, Sylvie
Pasquier, Laurent
Plessis, Ghislaine
Prieur, Fabienne
Putoux, Audrey
Rio, Marlène
Testard, Hervé
Bonnefont, Jean-Paul
Cormier-Daire, Valérie

January 2016

International audienceCornelia de Lange syndrome is a multisystemic developmental disorder mainly re...

The molecular genetics of the myelodysplastic syndromes

Abrahamson, G.M

January 1991

SIGLEAvailable from British Library Document Supply Centre- DSC:D96484 / BLDSC - British Library Doc...

Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome

Oliveira, Jorge
Dias, Cristina
Redeker, Egbert
Costa, Eurico
Silva, João
Lima, Margarida Reis
Den Dunnen, Johan T.
Santos, Rosário

November 2010

The establishment of Locus Specific Databases (LSDB) is a crucial aspect for the Human Genetics fiel...

Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome

Oliveira, J.
Dias, C.
Redeker, E.
Costa, E.
Silva, J.
Lima, M.R.
Dunnen, J.T. den
Santos, R.

November 2010

The establishment of Locus Specific Databases (LSDB) is a crucial aspect for the Human Genetics fiel...

Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family

Kremer, H.
Kuyt, L.P.
Helm, B. van den
Reen, M. van
Leunissen, J.A.M.
Hamel, B.C.J.
Jansen, Cees
Mariman, E.C.M.
Frants, R.R.
Padberg, G.W.A.M.

January 1996

Contains fulltext : 24254___.PDF (publisher's version ) (Open Access

Hidden Mutations in Cornelia de Lange Syndrome : Limitations of Sanger Sequencing in Molecular Diagnostics

D. Braunholz
C. Obieglo
I. Parenti
J. Pozojevic
J. Eckhold
B. Reiz
I. Br&#230
K.S. Wendt
E. Watrin
J. Vodopiutz
H. Rieder
G. Gillessen-Kaesbach
F.J. Kaiser

January 2015

Cornelia de Lange syndrome (CdLS) is a well-characterized developmental disorder. The genetic cause ...

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes

C. Gervasini
P. Castronovo
G. Roversi
M. Masciadri
L. Larizza
R. Pfundt
S. Russo
D. Milani
G. Zampino
A. Selicorni
E. Schoenmakers

January 2008

Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital anomaly/mental retardation syndrom...

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

January 2018

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intel...

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

Krantz, Ian D
McCallum, Jennifer
DeScipio, Cheryl
Kaur, Maninder
Gillis, Lynette A
Yaeger, Dinah
Jukofsky, Lori
Wasserman, Nora
Bottani, Armand
Morris, Colleen A
Nowaczyk, Malgorzata JM
Toriello, Helga
Bamshad, Michael J
Carey, John C
Rappaport, Eric
Kawauchi, Shimako
Lander, Arthur D
Calof, Anne L
Li, Hui-Hua
Devoto, Marcella
Jackson, Laird G

June 2004

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental d...

Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum

Angelo Selicorni
Milena Mariani
Antonella Lettieri
Valentina Massa

July 2021

Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of knowledge i...

Further contributions towards the molecular analysis of NIPBL and SMC1A genes in a cohort of patients with Cornelia de Lange Syndrome

E. Pinto Da Costa
J. Oliveira
J. Silva
R. Santos
Centro De Genética Médica
Dr. Jacinto Magalhães
Smca Mutation

September 2016

Cornelia de Lange Syndrome [CdLS (MIM#122470)] is a rare multisystemic developmental disorder with a...