Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Gillian Rice; Teresa Patrick; Rekha Parmar; Claire F Taylor; Alec Aeby; Jean Aicardi; Rafael Artuch; Simon Attard Montalto; Carlos A Bacino; Bruno Barroso; Peter Baxter; Willam S Benko; Carsten Bergmann; Enrico Bertini; Roberta Biancheri; Edward M Blair; Nenad Blau; David T Bonthron; Tracy Briggs; Louise A Brueton; Han G Brunner; Christopher J Burke; Ian M Carr; Daniel R Carvalho; Kate E Chandler; Hans-Jurgen Christen; Peter C Corry; Frances M Cowan; Helen Cox; Stefano DArrigo; John Dean; Corinne De Laet; Claudine De Praeter; Catherine Dery; Colin D Ferrie; Kim Flintoff; Suzanna G M Frints; Angels Garcia-Cazorla; Blanca Gener; Cyril Goizet; Francoise Goutieres; Andrew J Green; Agnes Guet; Ben C J Hamel; Bruce E Hayward; Arvid Heiberg; Raoul C Hennekam; Marie Husson; Andrew P Jackson; Rasieka Jayatunga; Yong-Hui Jiang; Sarina G Kant; Amy Kao; Mary D King; Helen M Kingston; Joerg Klepper; Marjo S van der Knaap; Andrew J Kornberg; Dieter Kotzot; Wilfried Kratzer; Didier Lacombe; Lieven Lagae; Pierre Georges Landrieu; Giovanni Lanzi; Andrea Leitch; Ming J Lim; John H Livingston; Charles M Lourenco; E G Hermione Lyall; Sally A Lynch; Michael J Lyons; Daphna Marom; John P McClure; Robert McWilliam; Serge B Melancon; Leena D Mewasingh; Marie-Laure Moutard; Ken K Nischal; John R Ostergaard; Julie Prendiville; Magnhild Rasmussen; R Curtis Rogers; Dominique Roland; Elisabeth M Rosser; Kevin Rostasy; Agathe Roubertie; Amparo Sanchis; Raphael Schiffmann; Sabine Scholl-Burgi; Sunita Seal; Stavit A Shalev; C Sierra Corcoles; Gyan P Sinha; Doriette Soler; Ronen Spiegel; John B P Stephenson; Uta Tacke; Tiong Yang Tan; Marianne Till; John L Tolmie; Pam Tomlin; Federica Vagnarelli; Enza Maria Valente; Rudy N A Van Coster; Nathalie Van der Aa; Adeline Vanderver; Johannes S H Vles; Thomas Voit; Evangeline Wassmer; Bernhard Weschke; Margo L Whiteford; Michel A A Willemsen; Andreas Zankl; Sameer M Zuberi; Simona Orcesi; Elisa Fazzi; Pierre Lebon; Yanick J Crow

doi:10.1086/521373

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Gillian Rice
, Teresa Patrick
, Rekha Parmar
, Claire F Taylor
, Alec Aeby
, Jean Aicardi
, Rafael Artuch
, Simon Attard Montalto
, Carlos A Bacino
, Bruno Barroso
, Peter Baxter
, Willam S Benko
, Carsten Bergmann
, Enrico Bertini
, Roberta Biancheri
, Edward M Blair
, Nenad Blau
, David T Bonthron
, Tracy Briggs
, Louise A Brueton

Han G Brunner, Christopher J Burke, Ian M Carr, Daniel R Carvalho, Kate E Chandler, Hans-Jurgen Christen, Peter C Corry, Frances M Cowan, Helen Cox, Stefano DArrigo, John Dean, Corinne De Laet, Claudine De Praeter, Catherine Dery, Colin D Ferrie, Kim Flintoff, Suzanna G M Frints, Angels Garcia-Cazorla, Blanca Gener, Cyril Goizet, Francoise Goutieres, Andrew J Green, Agnes Guet, Ben C J Hamel, Bruce E Hayward, Arvid Heiberg, Raoul C Hennekam, Marie Husson, Andrew P Jackson, Rasieka Jayatunga, Yong-Hui Jiang, Sarina G Kant, Amy Kao, Mary D King, Helen M Kingston, Joerg Klepper, Marjo S van der Knaap, Andrew J Kornberg, Dieter Kotzot, Wilfried Kratzer, Didier Lacombe, Lieven Lagae, Pierre Georges Landrieu, Giovanni Lanzi, Andrea Leitch, Ming J Lim, John H Livingston, Charles M Lourenco, E G Hermione Lyall, Sally A Lynch, Michael J Lyons, Daphna Marom, John P McClure, Robert McWilliam, Serge B Melancon, Leena D Mewasingh, Marie-Laure Moutard, Ken K Nischal, John R Ostergaard, Julie Prendiville, Magnhild Rasmussen, R Curtis Rogers, Dominique Roland, Elisabeth M Rosser, Kevin Rostasy, Agathe Roubertie, Amparo Sanchis, Raphael Schiffmann, Sabine Scholl-Burgi, Sunita Seal, Stavit A Shalev, C Sierra Corcoles, Gyan P Sinha, Doriette Soler, Ronen Spiegel, John B P Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till, John L Tolmie, Pam Tomlin, Federica Vagnarelli, Enza Maria Valente, Rudy N A Van Coster, Nathalie Van der Aa, Adeline Vanderver, Johannes S H Vles, Thomas Voit, Evangeline Wassmer, Bernhard Weschke, Margo L Whiteford, Michel A A Willemsen, Andreas Zankl, Sameer M Zuberi, Simona Orcesi, Elisa Fazzi, Pierre Lebon, Yanick J Crow

Institute of Human Genetics

Research output: Contribution to journal › Original Article › peer-review

360 Citations (Web of Science)

Original language	English
Pages (from-to)	713-725
Journal	AMERICAN JOURNAL OF HUMAN GENETICS
Volume	81
Issue number	4
DOIs	https://doi.org/10.1086/521373
Publication status	Published - 2007

Keywords

SYSTEMIC-LUPUS-ERYTHEMATOSUS
INFECTION-LIKE SYNDROME
PROGRESSIVE FAMILIAL ENCEPHALOPATHY
CEREBROSPINAL-FLUID LYMPHOCYTOSIS
INTERFERON-ALPHA
INTRAUTERINE INFECTION
INTRACRANIAL CALCIFICATION
BASAL GANGLIA
2 BROTHERS
MUTATIONS

Access to Document

10.1086/521373

Cite this

Rice, G., Patrick, T., Parmar, R., Taylor, C. F., Aeby, A., Aicardi, J., Artuch, R., Montalto, S. A., Bacino, C. A., Barroso, B., Baxter, P., Benko, W. S., Bergmann, C., Bertini, E., Biancheri, R., Blair, E. M., Blau, N., Bonthron, D. T., Briggs, T., ... Crow, Y. J. (2007). Clinical and molecular phenotype of Aicardi-Goutieres syndrome. AMERICAN JOURNAL OF HUMAN GENETICS , 81(4), 713-725. https://doi.org/10.1086/521373

Rice, Gillian ; Patrick, Teresa ; Parmar, Rekha et al. / Clinical and molecular phenotype of Aicardi-Goutieres syndrome. In: AMERICAN JOURNAL OF HUMAN GENETICS 2007 ; Vol. 81, No. 4. pp. 713-725.

@article{da600996fcbc4bb4b6a39fa09d5803c3,

title = "Clinical and molecular phenotype of Aicardi-Goutieres syndrome.",

keywords = "SYSTEMIC-LUPUS-ERYTHEMATOSUS, INFECTION-LIKE SYNDROME, PROGRESSIVE FAMILIAL ENCEPHALOPATHY, CEREBROSPINAL-FLUID LYMPHOCYTOSIS, INTERFERON-ALPHA, INTRAUTERINE INFECTION, INTRACRANIAL CALCIFICATION, BASAL GANGLIA, 2 BROTHERS, MUTATIONS",

author = "Gillian Rice and Teresa Patrick and Rekha Parmar and Taylor, \{Claire F\} and Alec Aeby and Jean Aicardi and Rafael Artuch and Montalto, \{Simon Attard\} and Bacino, \{Carlos A\} and Bruno Barroso and Peter Baxter and Benko, \{Willam S\} and Carsten Bergmann and Enrico Bertini and Roberta Biancheri and Blair, \{Edward M\} and Nenad Blau and Bonthron, \{David T\} and Tracy Briggs and Brueton, \{Louise A\} and Brunner, \{Han G\} and Burke, \{Christopher J\} and Carr, \{Ian M\} and Carvalho, \{Daniel R\} and Chandler, \{Kate E\} and Hans-Jurgen Christen and Corry, \{Peter C\} and Cowan, \{Frances M\} and Helen Cox and Stefano DArrigo and John Dean and \{De Laet\}, Corinne and \{De Praeter\}, Claudine and Catherine Dery and Ferrie, \{Colin D\} and Kim Flintoff and Frints, \{Suzanna G M\} and Angels Garcia-Cazorla and Blanca Gener and Cyril Goizet and Francoise Goutieres and Green, \{Andrew J\} and Agnes Guet and Hamel, \{Ben C J\} and Hayward, \{Bruce E\} and Arvid Heiberg and Hennekam, \{Raoul C\} and Marie Husson and Jackson, \{Andrew P\} and Rasieka Jayatunga and Yong-Hui Jiang and Kant, \{Sarina G\} and Amy Kao and King, \{Mary D\} and Kingston, \{Helen M\} and Joerg Klepper and \{van der Knaap\}, \{Marjo S\} and Kornberg, \{Andrew J\} and Dieter Kotzot and Wilfried Kratzer and Didier Lacombe and Lieven Lagae and Landrieu, \{Pierre Georges\} and Giovanni Lanzi and Andrea Leitch and Lim, \{Ming J\} and Livingston, \{John H\} and Lourenco, \{Charles M\} and Lyall, \{E G Hermione\} and Lynch, \{Sally A\} and Lyons, \{Michael J\} and Daphna Marom and McClure, \{John P\} and Robert McWilliam and Melancon, \{Serge B\} and Mewasingh, \{Leena D\} and Marie-Laure Moutard and Nischal, \{Ken K\} and Ostergaard, \{John R\} and Julie Prendiville and Magnhild Rasmussen and Rogers, \{R Curtis\} and Dominique Roland and Rosser, \{Elisabeth M\} and Kevin Rostasy and Agathe Roubertie and Amparo Sanchis and Raphael Schiffmann and Sabine Scholl-Burgi and Sunita Seal and Shalev, \{Stavit A\} and Corcoles, \{C Sierra\} and Sinha, \{Gyan P\} and Doriette Soler and Ronen Spiegel and Stephenson, \{John B P\} and Uta Tacke and Tan, \{Tiong Yang\} and Marianne Till and Tolmie, \{John L\} and Pam Tomlin and Federica Vagnarelli and Valente, \{Enza Maria\} and \{Van Coster\}, \{Rudy N A\} and \{Van der Aa\}, Nathalie and Adeline Vanderver and Vles, \{Johannes S H\} and Thomas Voit and Evangeline Wassmer and Bernhard Weschke and Whiteford, \{Margo L\} and Willemsen, \{Michel A A\} and Andreas Zankl and Zuberi, \{Sameer M\} and Simona Orcesi and Elisa Fazzi and Pierre Lebon and Crow, \{Yanick J\}",

year = "2007",

doi = "10.1086/521373",

language = "English",

volume = "81",

pages = "713--725",

journal = "AMERICAN JOURNAL OF HUMAN GENETICS ",

issn = "0002-9297",

publisher = "Elsevier ",

number = "4",

}

Rice, G, Patrick, T, Parmar, R, Taylor, CF, Aeby, A, Aicardi, J, Artuch, R, Montalto, SA, Bacino, CA, Barroso, B, Baxter, P, Benko, WS, Bergmann, C, Bertini, E, Biancheri, R, Blair, EM, Blau, N, Bonthron, DT, Briggs, T, Brueton, LA, Brunner, HG, Burke, CJ, Carr, IM, Carvalho, DR, Chandler, KE, Christen, H-J, Corry, PC, Cowan, FM, Cox, H, DArrigo, S, Dean, J, De Laet, C, De Praeter, C, Dery, C, Ferrie, CD, Flintoff, K, Frints, SGM, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutieres, F, Green, AJ, Guet, A, Hamel, BCJ, Hayward, BE, Heiberg, A, Hennekam, RC, Husson, M, Jackson, AP, Jayatunga, R, Jiang, Y-H, Kant, SG, Kao, A, King, MD, Kingston, HM, Klepper, J, van der Knaap, MS, Kornberg, AJ, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, PG, Lanzi, G, Leitch, A, Lim, MJ, Livingston, JH, Lourenco, CM, Lyall, EGH, Lynch, SA, Lyons, MJ, Marom, D, McClure, JP, McWilliam, R, Melancon, SB, Mewasingh, LD, Moutard, M-L, Nischal, KK, Ostergaard, JR, Prendiville, J, Rasmussen, M, Rogers, RC, Roland, D, Rosser, EM, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Burgi, S, Seal, S, Shalev, SA, Corcoles, CS, Sinha, GP, Soler, D, Spiegel, R, Stephenson, JBP, Tacke, U, Tan, TY, Till, M, Tolmie, JL, Tomlin, P, Vagnarelli, F, Valente, EM, Van Coster, RNA, Van der Aa, N, Vanderver, A, Vles, JSH, Voit, T, Wassmer, E, Weschke, B, Whiteford, ML, Willemsen, MAA, Zankl, A, Zuberi, SM, Orcesi, S, Fazzi, E, Lebon, P & Crow, YJ 2007, 'Clinical and molecular phenotype of Aicardi-Goutieres syndrome.', AMERICAN JOURNAL OF HUMAN GENETICS , vol. 81, no. 4, pp. 713-725. https://doi.org/10.1086/521373

Clinical and molecular phenotype of Aicardi-Goutieres syndrome. / Rice, Gillian; Patrick, Teresa; Parmar, Rekha et al.
In: AMERICAN JOURNAL OF HUMAN GENETICS , Vol. 81, No. 4, 2007, p. 713-725.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

AU - Rice, Gillian

AU - Patrick, Teresa

AU - Parmar, Rekha

AU - Taylor, Claire F

AU - Aeby, Alec

AU - Aicardi, Jean

AU - Artuch, Rafael

AU - Montalto, Simon Attard

AU - Bacino, Carlos A

AU - Barroso, Bruno

AU - Baxter, Peter

AU - Benko, Willam S

AU - Bergmann, Carsten

AU - Bertini, Enrico

AU - Biancheri, Roberta

AU - Blair, Edward M

AU - Blau, Nenad

AU - Bonthron, David T

AU - Briggs, Tracy

AU - Brueton, Louise A

AU - Brunner, Han G

AU - Burke, Christopher J

AU - Carr, Ian M

AU - Carvalho, Daniel R

AU - Chandler, Kate E

AU - Christen, Hans-Jurgen

AU - Corry, Peter C

AU - Cowan, Frances M

AU - Cox, Helen

AU - DArrigo, Stefano

AU - Dean, John

AU - De Laet, Corinne

AU - De Praeter, Claudine

AU - Dery, Catherine

AU - Ferrie, Colin D

AU - Flintoff, Kim

AU - Frints, Suzanna G M

AU - Garcia-Cazorla, Angels

AU - Gener, Blanca

AU - Goizet, Cyril

AU - Goutieres, Francoise

AU - Green, Andrew J

AU - Guet, Agnes

AU - Hamel, Ben C J

AU - Hayward, Bruce E

AU - Heiberg, Arvid

AU - Hennekam, Raoul C

AU - Husson, Marie

AU - Jackson, Andrew P

AU - Jayatunga, Rasieka

AU - Jiang, Yong-Hui

AU - Kant, Sarina G

AU - Kao, Amy

AU - King, Mary D

AU - Kingston, Helen M

AU - Klepper, Joerg

AU - van der Knaap, Marjo S

AU - Kornberg, Andrew J

AU - Kotzot, Dieter

AU - Kratzer, Wilfried

AU - Lacombe, Didier

AU - Lagae, Lieven

AU - Landrieu, Pierre Georges

AU - Lanzi, Giovanni

AU - Leitch, Andrea

AU - Lim, Ming J

AU - Livingston, John H

AU - Lourenco, Charles M

AU - Lyall, E G Hermione

AU - Lynch, Sally A

AU - Lyons, Michael J

AU - Marom, Daphna

AU - McClure, John P

AU - McWilliam, Robert

AU - Melancon, Serge B

AU - Mewasingh, Leena D

AU - Moutard, Marie-Laure

AU - Nischal, Ken K

AU - Ostergaard, John R

AU - Prendiville, Julie

AU - Rasmussen, Magnhild

AU - Rogers, R Curtis

AU - Roland, Dominique

AU - Rosser, Elisabeth M

AU - Rostasy, Kevin

AU - Roubertie, Agathe

AU - Sanchis, Amparo

AU - Schiffmann, Raphael

AU - Scholl-Burgi, Sabine

AU - Seal, Sunita

AU - Shalev, Stavit A

AU - Corcoles, C Sierra

AU - Sinha, Gyan P

AU - Soler, Doriette

AU - Spiegel, Ronen

AU - Stephenson, John B P

AU - Tacke, Uta

AU - Tan, Tiong Yang

AU - Till, Marianne

AU - Tolmie, John L

AU - Tomlin, Pam

AU - Vagnarelli, Federica

AU - Valente, Enza Maria

AU - Van Coster, Rudy N A

AU - Van der Aa, Nathalie

AU - Vanderver, Adeline

AU - Vles, Johannes S H

AU - Voit, Thomas

AU - Wassmer, Evangeline

AU - Weschke, Bernhard

AU - Whiteford, Margo L

AU - Willemsen, Michel A A

AU - Zankl, Andreas

AU - Zuberi, Sameer M

AU - Orcesi, Simona

AU - Fazzi, Elisa

AU - Lebon, Pierre

AU - Crow, Yanick J

PY - 2007

Y1 - 2007

KW - SYSTEMIC-LUPUS-ERYTHEMATOSUS

KW - INFECTION-LIKE SYNDROME

KW - PROGRESSIVE FAMILIAL ENCEPHALOPATHY

KW - CEREBROSPINAL-FLUID LYMPHOCYTOSIS

KW - INTERFERON-ALPHA

KW - INTRAUTERINE INFECTION

KW - INTRACRANIAL CALCIFICATION

KW - BASAL GANGLIA

KW - 2 BROTHERS

KW - MUTATIONS

U2 - 10.1086/521373

DO - 10.1086/521373

M3 - Original Article

C2 - 17846997

SN - 0002-9297

VL - 81

SP - 713

EP - 725

JO - AMERICAN JOURNAL OF HUMAN GENETICS

JF - AMERICAN JOURNAL OF HUMAN GENETICS

IS - 4

ER -

Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. AMERICAN JOURNAL OF HUMAN GENETICS . 2007;81(4):713-725. doi: 10.1086/521373