Christèle Dubourg, Leïla Lazaro, Laurent Pasquier, Claude Bendavid, Martine Blayau, Franck Le Duff, Marie-Renée Durou, Sylvie Odent, Véronique David. Hum Mutat 2004
Times Cited: 116
Times Cited: 116
Times Cited
Times Co-cited
Similarity
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
E Roessler, E Belloni, K Gaudenz, P Jay, P Berta, S W Scherer, L C Tsui, M Muenke. Nat Genet 1996
E Roessler, E Belloni, K Gaudenz, P Jay, P Berta, S W Scherer, L C Tsui, M Muenke. Nat Genet 1996
41
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
K W Gripp, D Wotton, M C Edwards, E Roessler, L Ades, P Meinecke, A Richieri-Costa, E H Zackai, J Massagué, M Muenke,[...]. Nat Genet 2000
K W Gripp, D Wotton, M C Edwards, E Roessler, L Ades, P Meinecke, A Richieri-Costa, E H Zackai, J Massagué, M Muenke,[...]. Nat Genet 2000
40
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.
Jeffrey E Ming, Maximilian Muenke. Am J Hum Genet 2002
Jeffrey E Ming, Maximilian Muenke. Am J Hum Genet 2002
34
Holoprosencephaly.
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David. Orphanet J Rare Dis 2007
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David. Orphanet J Rare Dis 2007
33
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
L Nanni, J E Ming, M Bocian, K Steinhaus, D W Bianchi, C Die-Smulders, A Giannotti, K Imaizumi, K L Jones, M D Campo,[...]. Hum Mol Genet 1999
L Nanni, J E Ming, M Bocian, K Steinhaus, D W Bianchi, C Die-Smulders, A Giannotti, K Imaizumi, K L Jones, M D Campo,[...]. Hum Mol Genet 1999
31
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
S A Brown, D Warburton, L Y Brown, C Y Yu, E R Roeder, S Stengel-Rutkowski, R C Hennekam, M Muenke. Nat Genet 1998
S A Brown, D Warburton, L Y Brown, C Y Yu, E R Roeder, S Stengel-Rutkowski, R C Hennekam, M Muenke. Nat Genet 1998
31
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
Erich Roessler, Yang-Zhu Du, Jose L Mullor, Esther Casas, William P Allen, Gabriele Gillessen-Kaesbach, Elizabeth R Roeder, Jeffrey E Ming, Ariel Ruiz i Altaba, Maximilian Muenke. Proc Natl Acad Sci U S A 2003
Erich Roessler, Yang-Zhu Du, Jose L Mullor, Esther Casas, William P Allen, Gabriele Gillessen-Kaesbach, Elizabeth R Roeder, Jeffrey E Ming, Ariel Ruiz i Altaba, Maximilian Muenke. Proc Natl Acad Sci U S A 2003
31
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
D E Wallis, E Roessler, U Hehr, L Nanni, T Wiltshire, A Richieri-Costa, G Gillessen-Kaesbach, E H Zackai, J Rommens, M Muenke. Nat Genet 1999
D E Wallis, E Roessler, U Hehr, L Nanni, T Wiltshire, A Richieri-Costa, G Gillessen-Kaesbach, E H Zackai, J Rommens, M Muenke. Nat Genet 1999
30
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
Jeffrey E Ming, Michelle E Kaupas, Erich Roessler, Han G Brunner, Mahin Golabi, Mustafa Tekin, Robert F Stratton, Eva Sujansky, Sherri J Bale, Maximilian Muenke. Hum Genet 2002
Jeffrey E Ming, Michelle E Kaupas, Erich Roessler, Han G Brunner, Mahin Golabi, Mustafa Tekin, Robert F Stratton, Eva Sujansky, Sherri J Bale, Maximilian Muenke. Hum Genet 2002
30
Holoprosencephaly: clinical, anatomic, and molecular dimensions.
M Michael Cohen. Birth Defects Res A Clin Mol Teratol 2006
M Michael Cohen. Birth Defects Res A Clin Mol Teratol 2006
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Phenotypic and molecular variability of the holoprosencephalic spectrum.
Leila Lazaro, Christéle Dubourg, Laurent Pasquier, Franck Le Duff, Martine Blayau, Marie-Renée Durou, Armelle Thomas de la Pintière, Céline Aguilella, Véronique David, Sylvie Odent. Am J Med Genet A 2004
Leila Lazaro, Christéle Dubourg, Laurent Pasquier, Franck Le Duff, Martine Blayau, Marie-Renée Durou, Armelle Thomas de la Pintière, Céline Aguilella, Véronique David, Sylvie Odent. Am J Med Genet A 2004
43
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.
Claude Bendavid, Christèle Dubourg, Isabelle Gicquel, Laurent Pasquier, Pascale Saugier-Veber, Marie-Renée Durou, Sylvie Jaillard, Thierry Frébourg, Bassem R Haddad, Catherine Henry,[...]. Hum Genet 2006
Claude Bendavid, Christèle Dubourg, Isabelle Gicquel, Laurent Pasquier, Pascale Saugier-Veber, Marie-Renée Durou, Sylvie Jaillard, Thierry Frébourg, Bassem R Haddad, Catherine Henry,[...]. Hum Genet 2006
51
A new mutation in the six-domain of SIX3 gene causes holoprosencephaly.
L Pasquier, C Dubourg, M Blayau, L Lazaro, B Le Marec, V David, S Odent. Eur J Hum Genet 2000
L Pasquier, C Dubourg, M Blayau, L Lazaro, B Le Marec, V David, S Odent. Eur J Hum Genet 2000
37
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.
C Bendavid, B R Haddad, A Griffin, M Huizing, C Dubourg, I Gicquel, L R Cavalli, L Pasquier, A L Shanske, R Long,[...]. J Med Genet 2006
C Bendavid, B R Haddad, A Griffin, M Huizing, C Dubourg, I Gicquel, L R Cavalli, L Pasquier, A L Shanske, R Long,[...]. J Med Genet 2006
52
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function.
C Chiang, Y Litingtung, E Lee, K E Young, J L Corden, H Westphal, P A Beachy. Nature 1996
C Chiang, Y Litingtung, E Lee, K E Young, J L Corden, H Westphal, P A Beachy. Nature 1996
19
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
E Belloni, M Muenke, E Roessler, G Traverso, J Siegel-Bartelt, A Frumkin, H F Mitchell, H Donis-Keller, C Helms, A V Hing,[...]. Nat Genet 1996
E Belloni, M Muenke, E Roessler, G Traverso, J Siegel-Bartelt, A Frumkin, H F Mitchell, H Donis-Keller, C Helms, A V Hing,[...]. Nat Genet 1996
17
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.
June M de la Cruz, Richard N Bamford, Rebecca D Burdine, Erich Roessler, A James Barkovich, Dian Donnai, Alexander F Schier, Maximilian Muenke. Hum Genet 2002
June M de la Cruz, Richard N Bamford, Rebecca D Burdine, Erich Roessler, A James Barkovich, Dian Donnai, Alexander F Schier, Maximilian Muenke. Hum Genet 2002
20
The molecular genetics of holoprosencephaly.
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
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Holoprosencephaly: a paradigm for the complex genetics of brain development.
E Roessler, M Muenke. J Inherit Metab Dis 1998
E Roessler, M Muenke. J Inherit Metab Dis 1998
16
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.
I M Orioli, E E Castilla, J E Ming, J Nazer, M J Burle de Aguiar, J C Llerena, M Muenke. Hum Genet 2001
I M Orioli, E E Castilla, J E Ming, J Nazer, M J Burle de Aguiar, J C Llerena, M Muenke. Hum Genet 2001
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Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
Erich Roessler, Yong Ma, Maia V Ouspenskaia, Felicitas Lacbawan, Claude Bendavid, Christèle Dubourg, Philip A Beachy, Maximilian Muenke. Hum Genet 2009
Erich Roessler, Yong Ma, Maia V Ouspenskaia, Felicitas Lacbawan, Claude Bendavid, Christèle Dubourg, Philip A Beachy, Maximilian Muenke. Hum Genet 2009
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Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
F Lacbawan, B D Solomon, E Roessler, K El-Jaick, S Domené, J I Vélez, N Zhou, D Hadley, J Z Balog, R Long,[...]. J Med Genet 2009
F Lacbawan, B D Solomon, E Roessler, K El-Jaick, S Domené, J I Vélez, N Zhou, D Hadley, J Z Balog, R Long,[...]. J Med Genet 2009
23
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
L Y Brown, S Odent, V David, M Blayau, C Dubourg, C Apacik, M A Delgado, B D Hall, J F Reynolds, A Sommer,[...]. Hum Mol Genet 2001
L Y Brown, S Odent, V David, M Blayau, C Dubourg, C Apacik, M A Delgado, B D Hall, J F Reynolds, A Sommer,[...]. Hum Mol Genet 2001
15
Holoprosencephaly in human embryos: epidemiologic studies of 150 cases.
E Matsunaga, K Shiota. Teratology 1977
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Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology.
M M Cohen. Teratology 1989
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15
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
Erich Roessler, Felicitas Lacbawan, Christèle Dubourg, Aimee Paulussen, Jos Herbergs, Ute Hehr, Claude Bendavid, Nan Zhou, Maia Ouspenskaia, Sherri Bale,[...]. Hum Mutat 2009
Erich Roessler, Felicitas Lacbawan, Christèle Dubourg, Aimee Paulussen, Jos Herbergs, Ute Hehr, Claude Bendavid, Nan Zhou, Maia Ouspenskaia, Sherri Bale,[...]. Hum Mutat 2009
30
Analysis of genotype-phenotype correlations in human holoprosencephaly.
Benjamin D Solomon, Sandra Mercier, Jorge I Vélez, Daniel E Pineda-Alvarez, Adrian Wyllie, Nan Zhou, Christèle Dubourg, Veronique David, Sylvie Odent, Erich Roessler,[...]. Am J Med Genet C Semin Med Genet 2010
Benjamin D Solomon, Sandra Mercier, Jorge I Vélez, Daniel E Pineda-Alvarez, Adrian Wyllie, Nan Zhou, Christèle Dubourg, Veronique David, Sylvie Odent, Erich Roessler,[...]. Am J Med Genet C Semin Med Genet 2010
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THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY).
W DEMYER, W ZEMAN, C G PALMER. Pediatrics 1964
W DEMYER, W ZEMAN, C G PALMER. Pediatrics 1964
14
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
Elisabeth Traiffort, Christèle Dubourg, Hélène Faure, Didier Rognan, Sylvie Odent, Marie-Renée Durou, Véronique David, Martial Ruat. J Biol Chem 2004
Elisabeth Traiffort, Christèle Dubourg, Hélène Faure, Didier Rognan, Sylvie Odent, Marie-Renée Durou, Véronique David, Martial Ruat. J Biol Chem 2004
24
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.
E Roessler, E Belloni, K Gaudenz, F Vargas, S W Scherer, L C Tsui, M Muenke. Hum Mol Genet 1997
E Roessler, E Belloni, K Gaudenz, F Vargas, S W Scherer, L C Tsui, M Muenke. Hum Mol Genet 1997
14
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
Erich Roessler, Maia V Ouspenskaia, Jayaprakash D Karkera, Jorge I Vélez, Amy Kantipong, Felicitas Lacbawan, Peter Bowers, John W Belmont, Jeffrey A Towbin, Elizabeth Goldmuntz,[...]. Am J Hum Genet 2008
Erich Roessler, Maia V Ouspenskaia, Jayaprakash D Karkera, Jorge I Vélez, Amy Kantipong, Felicitas Lacbawan, Peter Bowers, John W Belmont, Jeffrey A Towbin, Elizabeth Goldmuntz,[...]. Am J Hum Genet 2008
14
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
S Odent, T Atti-Bitach, M Blayau, M Mathieu, J Aug, A L Delezo de, J Y Gall, B Le Marec, A Munnich, V David,[...]. Hum Mol Genet 1999
S Odent, T Atti-Bitach, M Blayau, M Mathieu, J Aug, A L Delezo de, J Y Gall, B Le Marec, A Munnich, V David,[...]. Hum Mol Genet 1999
13
First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations.
L Pasquier, C Dubourg, M Gonzales, L Lazaro, V David, S Odent, F Encha-Razavi. J Med Genet 2005
L Pasquier, C Dubourg, M Gonzales, L Lazaro, V David, S Odent, F Encha-Razavi. J Med Genet 2005
44
Zic2 regulates the kinetics of neurulation.
T Nagai, J Aruga, O Minowa, T Sugimoto, Y Ohno, T Noda, K Mikoshiba. Proc Natl Acad Sci U S A 2000
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13
Functional analysis of mutations in TGIF associated with holoprosencephaly.
Kenia B El-Jaick, Shannon E Powers, Laurent Bartholin, Kenneth R Myers, Jin Hahn, Ieda M Orioli, Maia Ouspenskaia, Felicitas Lacbawan, Erich Roessler, David Wotton,[...]. Mol Genet Metab 2007
Kenia B El-Jaick, Shannon E Powers, Laurent Bartholin, Kenneth R Myers, Jin Hahn, Ieda M Orioli, Maia Ouspenskaia, Felicitas Lacbawan, Erich Roessler, David Wotton,[...]. Mol Genet Metab 2007
23
Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.
Xin Geng, Christina Speirs, Oleg Lagutin, Adi Inbal, Wei Liu, Lilianna Solnica-Krezel, Yongsu Jeong, Douglas J Epstein, Guillermo Oliver. Dev Cell 2008
Xin Geng, Christina Speirs, Oleg Lagutin, Adi Inbal, Wei Liu, Lilianna Solnica-Krezel, Yongsu Jeong, Douglas J Epstein, Guillermo Oliver. Dev Cell 2008
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Single median maxillary central incisor: new data and mutation review.
Kênia B El-Jaick, Renata F Fonseca, Miguel A Moreira, Márcia G Ribeiro, Ana M Bolognese, Sânia O Dias, Eliane T Pereira, Eduardo E Castilla, Iêda M Orioli. Birth Defects Res A Clin Mol Teratol 2007
Kênia B El-Jaick, Renata F Fonseca, Miguel A Moreira, Márcia G Ribeiro, Ana M Bolognese, Sânia O Dias, Eliane T Pereira, Eduardo E Castilla, Iêda M Orioli. Birth Defects Res A Clin Mol Teratol 2007
46
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Erich Roessler, Kenia B El-Jaick, Christèle Dubourg, Jorge I Vélez, Benjamin D Solomon, Daniel E Pineda-Alvarez, Felicitas Lacbawan, Nan Zhou, Maia Ouspenskaia, Aimée Paulussen,[...]. Hum Mutat 2009
Erich Roessler, Kenia B El-Jaick, Christèle Dubourg, Jorge I Vélez, Benjamin D Solomon, Daniel E Pineda-Alvarez, Felicitas Lacbawan, Nan Zhou, Maia Ouspenskaia, Aimée Paulussen,[...]. Hum Mutat 2009
20
Six3 repression of Wnt signaling in the anterior neuroectoderm is essential for vertebrate forebrain development.
Oleg V Lagutin, Changqi C Zhu, Daisuke Kobayashi, Jacek Topczewski, Kenji Shimamura, Luis Puelles, Helen R C Russell, Peter J McKinnon, Lilianna Solnica-Krezel, Guillermo Oliver. Genes Dev 2003
Oleg V Lagutin, Changqi C Zhu, Daisuke Kobayashi, Jacek Topczewski, Kenji Shimamura, Luis Puelles, Helen R C Russell, Peter J McKinnon, Lilianna Solnica-Krezel, Guillermo Oliver. Genes Dev 2003
12
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
Fedik Rahimov, Lucilene Arilho Ribeiro, Eziquiel de Miranda, Antonio Richieri-Costa, Jeffrey C Murray. Am J Med Genet A 2006
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Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation.
Nicholas Warr, Nicola Powles-Glover, Anna Chappell, Joan Robson, Dominic Norris, Ruth M Arkell. Hum Mol Genet 2008
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17
Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Sabina Domené, Erich Roessler, Kenia B El-Jaick, Mirit Snir, Jamie L Brown, Jorge I Vélez, Sherri Bale, Felicitas Lacbawan, Maximilian Muenke, Benjamin Feldman. Hum Mol Genet 2008
Sabina Domené, Erich Roessler, Kenia B El-Jaick, Mirit Snir, Jamie L Brown, Jorge I Vélez, Sherri Bale, Felicitas Lacbawan, Maximilian Muenke, Benjamin Feldman. Hum Mol Genet 2008
28
Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations.
Céline Aguilella, Christèle Dubourg, Jocelyne Attia-Sobol, Jacqueline Vigneron, Martine Blayau, Laurent Pasquier, Leila Lazaro, Sylvie Odent, Véronique David. Hum Genet 2003
Céline Aguilella, Christèle Dubourg, Jocelyne Attia-Sobol, Jacqueline Vigneron, Martine Blayau, Laurent Pasquier, Leila Lazaro, Sylvie Odent, Véronique David. Hum Genet 2003
28
Holoprosencephaly: epidemiologic and clinical characteristics of a California population.
L A Croen, G M Shaw, E J Lammer. Am J Med Genet 1996
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Holoprosencephaly in infants of diabetic mothers.
M Barr, J W Hanson, K Currey, S Sharp, H Toriello, R D Schmickel, G N Wilson. J Pediatr 1983
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Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989.
C L Olsen, J P Hughes, L G Youngblood, M Sharpe-Stimac. Am J Med Genet 1997
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Segregation analysis in nonsyndromic holoprosencephaly.
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Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development.
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11
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.