De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features

被引：0

作者：

Gordon, C. T. ^{[1
]}

Mak, C. ^{[2
]}

Doherty, D. ^{[3
]}

Lin, A. ^{[4
]}

Vegas, N. ^{[1
]}

Cho, M. ^{[5
]}

Viot, G. ^{[6
]}

Dimartino, C. ^{[1
]}

Weisfeld-Adams, J. ^{[7
]}

Lessel, D. ^{[8
]}

Joss, S. ^{[9
]}

Li, C. ^{[10
]}

Gonzaga-Jauregui, C. ^{[11
]}

Zarate, Y. ^{[12
]}

Horn, D. ^{[13
]}

Troyer, C. ^{[14
]}

Kant, S. ^{[15
]}

Leung, G. ^{[2
]}

Barone, A. ^{[16
]}

Yang, S. ^{[5
]}

Bend, E. ^{[17
]}

Roadhouse, C. ^{[10
]}

Zahir, F. ^{[18
]}

Stolerman, E. ^{[17
]}

Bienvenu, T. ^{[19
]}

Orenstein, N. ^{[20
]}

Dobyns, W. ^{[3
]}

Shieh, J. ^{[21
]}

Waggoner, D. ^{[22
]}

Gripp, K. ^{[23
]}

Parker, M. ^{[24
]}

Stoler, J. ^{[25
]}

Lyonnet, S. ^{[1
]}

Cormier-Daire, V. ^{[1
]}

Viskochil, D. ^{[26
]}

Hoffman, T. ^{[27
]}

Amiel, J. ^{[1
]}

Chung, B. ^{[2
]}

机构：

[1] INSERM, U1163, Inst Imagine, Paris, France

[2] Univ Hong Kong, Hong Kong, Peoples R China

[3] Univ Washington, Seattle, WA 98195 USA

[4] MassGen Hosp Children, Boston, MA USA

[5] GeneDx, Gaithersburg, MD USA

[6] Hop Cochin, Paris, France

[7] Univ Colorado, Aurora, CO USA

[8] Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany

[9] West Scotland Reg Genet Serv, Glasgow, Lanark, Scotland

[10] McMaster Univ, Med Ctr, Hamilton, ON, Canada

[11] Regeneron Genet Ctr, Tarrytown, NY USA

[12] Univ Arkansas Med Sci, Little Rock, AR 72205 USA

[13] Inst Med Genet & Humangenet, Berlin, Germany

[14] Univ Virginia, Charlottesville, VA USA

[15] Leiden Univ, Med Ctr, Leiden, Netherlands

[16] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA

[17] Greenwood Genet Ctr, Greenwood, SC 29646 USA

[18] Univ British Columbia, Vancouver, BC, Canada

[19] Inst Cochin, Paris, France

[20] Tel Aviv Univ, Tel Aviv, Israel

[21] Univ Calif San Francisco, San Francisco, CA 94143 USA

[22] Univ Chicago, Chicago, IL 60637 USA

[23] AI duPont Hosp Children Nemours, Wilmington, DE USA

[24] Sheffield Childrens Hosp, Sheffield, S Yorkshire, England

[25] Boston Childrens Hosp, Boston, MA USA

[26] Univ Utah, Salt Lake City, UT USA

[27] Southern Calif Kaiser Permanente Med Grp, Anaheim, CA USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

C05.5

引用

页码：1093 / 1094

页数：2

共 50 条

[31] Differential effects of N-terminal vs C-terminal truncating CDKN1A mutations on cisplatin resistance in bladder cancer
Sikder, Rahmat K.
El-Deiry, Wafik S.
Abbosh, Philip H.
CANCER RESEARCH, 2018, 78 (13)
[32] Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome
Hempel, Annmarie
Pagnamenta, Alistair T.
Blyth, Moira
Mansour, Sahar
McConnell, Vivienne
Kou, Ikuyo
Ikegawa, Shiro
Tsurusaki, Yoshinori
Matsumoto, Naomichi
Lo-Castro, Adriana
Plessis, Ghislaine
Albrecht, Beate
Battaglia, Agatino
Taylor, Jenny C.
Howard, Malcolm F.
Keays, David
Sohal, Aman Singh
Kuehl, Susanne J.
Kini, Usha
McNeill, Alisdair
JOURNAL OF MEDICAL GENETICS, 2016, 53 (03) : 152 - 162
[33] De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability
Isidor, Bertrand
Kuery, Sebastien
Rosenfeld, Jill A.
Besnard, Thomas
Schmitt, Sebastien
Joss, Shelagh
Davies, Sally J.
Lebel, Robert Roger
Henderson, Alex
Schaaf, Christian P.
Streff, Haley E.
Yang, Yaping
Jain, Vani
Chida, Nodoka
Latypova, Xenia
Le Caignec, Cedric
Cogne, Benjamin
Mercier, Sandra
Vincent, Marie
Colin, Estelle
Bonneau, Dominique
Denomme, Anne-Sophie
Parent, Philippe
Gilbert-Dussardier, Brigitte
Odent, Sylvie
Toutain, Annick
Piton, Amelie
Dina, Christian
Donnart, Audrey
Lindenbaum, Pierre
Charpentier, Eric
Redon, Richard
Iemura, Kenji
Ikeda, Masanori
Tanaka, Kozo
Bezieau, Stephane
HUMAN MUTATION, 2016, 37 (04) : 354 - 358
[34] De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
Alexander Hoischen
Bregje W M van Bon
Benjamín Rodríguez-Santiago
Christian Gilissen
Lisenka E L M Vissers
Petra de Vries
Irene Janssen
Bart van Lier
Rob Hastings
Sarah F Smithson
Ruth Newbury-Ecob
Susanne Kjaergaard
Judith Goodship
Ruth McGowan
Deborah Bartholdi
Anita Rauch
Maarit Peippo
Jan M Cobben
Dagmar Wieczorek
Gabriele Gillessen-Kaesbach
Joris A Veltman
Han G Brunner
Bert B B A de Vries
Nature Genetics, 2011, 43 : 729 - 731
[35] De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
Hoischen, Alexander
van Bon, Bregje W. M.
Rodriguez-Santiago, Benjamin
Gilissen, Christian
Vissers, Lisenka E. L. M.
de Vries, Petra
Janssen, Irene
van Lier, Bart
Hastings, Rob
Smithson, Sarah F.
Newbury-Ecob, Ruth
Kjaergaard, Susanne
Goodship, Judith
McGowan, Ruth
Bartholdi, Deborah
Rauch, Anita
Peippo, Maarit
Cobben, Jan M.
Wieczorek, Dagmar
Gillessen-Kaesbach, Gabriele
Veltman, Joris A.
Brunner, Han G.
de Vries, Bert B. B. A.
NATURE GENETICS, 2011, 43 (08) : 729 - 731
[36] De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
Fregeau, Brieana
Kim, Bum Jun
Hernandez-Garcia, Andres
Jordan, Valerie K.
Cho, Megan T.
Schnur, Rhonda E.
Monaghan, Kristin G.
Juusola, Jane
Rosenfeld, Jill A.
Bhoj, Elizabeth
Zackai, Elaine H.
Sacharow, Stephanie
Baranano, Kristin
Bosch, Danielle G. M.
de Vries, Bert B. A.
Lindstrom, Kristin
Schroeder, Audrey
James, Philip
Kulch, Peggy
Lalani, Seema R.
van Haelst, Mieke M.
van Gassen, Koen L. I.
van Binsbergen, Ellen
Barkovich, A. James
Scott, Daryl A.
Sherr, Elliott H.
AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 98 (05) : 963 - 970
[37] Two Independent de novo Mutations as a Cause for Neurofibromatosis Type 1 and Noonan Syndrome in a Single Family
Pasmant, Eric
Amiel, Jeanne
Rodriguez, Diana
Vidaud, Michel
Vidaud, Dominique
Parfait, Beatrice
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (09) : 2290 - 2291
[38] De novo mutations in PLXND1 and REV3L cause Mobius syndrome
Tomas-Roca, Laura
Tsaalbi-Shtylik, Anastasia
Jansen, Jacob G.
Singh, Manvendra K.
Epstein, Jonathan A.
Altunoglu, Umut
Verzijl, Harriette
Soria, Laura
van Beusekom, Ellen
Roscioli, Tony
Iqbal, Zafar
Gilissen, Christian
Hoischen, Alexander
de Brouwer, Arjan P. M.
Erasmus, Corrie
Schubert, Dirk
Brunner, Han
Aytes, Antonio Perez
Marin, Faustino
Aroca, Pilar
Kayserili, Hulya
Carta, Arturo
de Wind, Niels
Padberg, George W.
van Bokhoven, Hans
NATURE COMMUNICATIONS, 2015, 6
[39] De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
Roser Ufartes
Hanna Berger
Katharina Till
Gabriela Salinas
Marc Sturm
Janine Altmüller
Peter Nürnberg
Holger Thiele
Rudolf Funke
Neophytos Apeshiotis
Hendrik Langen
Bernd Wollnik
Annette Borchers
Silke Pauli
Human Genetics, 2020, 139 : 1363 - 1379
[40] De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
Ufartes, Roser
Berger, Hanna
Till, Katharina
Salinas, Gabriela
Sturm, Marc
Altmueller, Janine
Nuernberg, Peter
Thiele, Holger
Funke, Rudolf
Apeshiotis, Neophytos
Langen, Hendrik
Wollnik, Bernd
Borchers, Annette
Pauli, Silke
HUMAN GENETICS, 2020, 139 (11) : 1363 - 1379

← 1 2 3 4 5 →