W DEMYER, W ZEMAN, C G PALMER. Pediatrics 1964
Times Cited: 470
Times Cited: 470
Times Cited
Times Co-cited
Similarity
Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations.
W DEMYER, W ZEMAN. Confin Neurol 1963
W DEMYER, W ZEMAN. Confin Neurol 1963
18
Holoprosencephaly in human embryos: epidemiologic studies of 150 cases.
E Matsunaga, K Shiota. Teratology 1977
E Matsunaga, K Shiota. Teratology 1977
15
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
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Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
Thomas C Winter, Anne M Kennedy, Paula J Woodward. Radiographics 2015
Thomas C Winter, Anne M Kennedy, Paula J Woodward. Radiographics 2015
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Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation.
Jin S Hahn, Patrick D Barnes. Am J Med Genet C Semin Med Genet 2010
Jin S Hahn, Patrick D Barnes. Am J Med Genet C Semin Med Genet 2010
13
Epidemiology of holoprosencephaly: Prevalence and risk factors.
Iêda M Orioli, Eduardo E Castilla. Am J Med Genet C Semin Med Genet 2010
Iêda M Orioli, Eduardo E Castilla. Am J Med Genet C Semin Med Genet 2010
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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
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Molecular interactions coordinating the development of the forebrain and face.
Ralph S Marcucio, Dwight R Cordero, Diane Hu, Jill A Helms. Dev Biol 2005
Ralph S Marcucio, Dwight R Cordero, Diane Hu, Jill A Helms. Dev Biol 2005
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Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology.
M M Cohen. Teratology 1989
M M Cohen. Teratology 1989
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Management of children with holoprosencephaly.
Eric B Levey, Elaine Stashinko, Nancy J Clegg, Mauricio R Delgado. Am J Med Genet C Semin Med Genet 2010
Eric B Levey, Elaine Stashinko, Nancy J Clegg, Mauricio R Delgado. Am J Med Genet C Semin Med Genet 2010
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Anatomical classification facial, cranio-facial and latero-facial clefts.
P Tessier. J Maxillofac Surg 1976
P Tessier. J Maxillofac Surg 1976
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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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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
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Neuropathology of holoprosencephaly.
Pascale Marcorelles, Annie Laquerriere. Am J Med Genet C Semin Med Genet 2010
Pascale Marcorelles, Annie Laquerriere. Am J Med Genet C Semin Med Genet 2010
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Facial Morphogenesis: Physical and Molecular Interactions Between the Brain and the Face.
Ralph Marcucio, Benedikt Hallgrimsson, Nathan M Young. Curr Top Dev Biol 2015
Ralph Marcucio, Benedikt Hallgrimsson, Nathan M Young. Curr Top Dev Biol 2015
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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
9
Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype.
A J Lewis, E M Simon, A J Barkovich, N J Clegg, M R Delgado, E Levey, J S Hahn. Neurology 2002
A J Lewis, E M Simon, A J Barkovich, N J Clegg, M R Delgado, E Levey, J S Hahn. Neurology 2002
13
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Boris Campillo-Gimenez, Isabelle Gicquel, Marion Belleguic, Leslie Ratié, Laurent Pasquier, Philippe Loget, Claude Bendavid,[...]. J Med Genet 2011
Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Boris Campillo-Gimenez, Isabelle Gicquel, Marion Belleguic, Leslie Ratié, Laurent Pasquier, Philippe Loget, Claude Bendavid,[...]. J Med Genet 2011
11
The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse.
Henry W Kietzman, Joshua L Everson, Kathleen K Sulik, Robert J Lipinski. PLoS One 2014
Henry W Kietzman, Joshua L Everson, Kathleen K Sulik, Robert J Lipinski. PLoS One 2014
11
The middle interhemispheric variant of holoprosencephaly.
Erin M Simon, Robert F Hevner, Joseph D Pinter, Nancy J Clegg, Mauricio Delgado, Stephen L Kinsman, Jin S Hahn, A James Barkovich. AJNR Am J Neuroradiol 2002
Erin M Simon, Robert F Hevner, Joseph D Pinter, Nancy J Clegg, Mauricio Delgado, Stephen L Kinsman, Jin S Hahn, A James Barkovich. AJNR Am J Neuroradiol 2002
9
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
Benjamin D Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy J Clegg, Mauricio R Delgado, Kenneth Rosenbaum, Christèle Dubourg, Veronique David, Ann Haskins Olney, Lars-Erik Wehner,[...]. J Med Genet 2010
Benjamin D Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy J Clegg, Mauricio R Delgado, Kenneth Rosenbaum, Christèle Dubourg, Veronique David, Ann Haskins Olney, Lars-Erik Wehner,[...]. J Med Genet 2010
14
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
8
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
8
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
8
A SHH-responsive signaling center in the forebrain regulates craniofacial morphogenesis via the facial ectoderm.
Diane Hu, Ralph S Marcucio. Development 2009
Diane Hu, Ralph S Marcucio. Development 2009
8
Holoprosencephaly: epidemiologic and clinical characteristics of a California population.
L A Croen, G M Shaw, E J Lammer. Am J Med Genet 1996
L A Croen, G M Shaw, E J Lammer. Am J Med Genet 1996
8
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
8
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
C L Olsen, J P Hughes, L G Youngblood, M Sharpe-Stimac. Am J Med Genet 1997
8
Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomalies.
J S Hahn, P D Barnes, N J Clegg, E E Stashinko. AJNR Am J Neuroradiol 2010
J S Hahn, P D Barnes, N J Clegg, E E Stashinko. AJNR Am J Neuroradiol 2010
24
Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice.
Mingi Hong, Robert S Krauss. PLoS Genet 2012
Mingi Hong, Robert S Krauss. PLoS Genet 2012
10
Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions.
Erich Roessler, Jorge I Vélez, Nan Zhou, Maximilian Muenke. Mol Genet Metab 2012
Erich Roessler, Jorge I Vélez, Nan Zhou, Maximilian Muenke. Mol Genet Metab 2012
19
Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans.
Anna Petryk, Daniel Graf, Ralph Marcucio. Wiley Interdiscip Rev Dev Biol 2015
Anna Petryk, Daniel Graf, Ralph Marcucio. Wiley Interdiscip Rev Dev Biol 2015
13
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
10
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
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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
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Perspectives on holoprosencephaly: Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies.
M M Cohen, K K Sulik. J Craniofac Genet Dev Biol 1992
M M Cohen, K K Sulik. J Craniofac Genet Dev Biol 1992
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Holoprosencephaly: birth data, benetic and demographic analyses of 30 families.
E Roach, W Demyer, P M Conneally, C Palmer, A D Merritt. Birth Defects Orig Artic Ser 1975
E Roach, W Demyer, P M Conneally, C Palmer, A D Merritt. Birth Defects Orig Artic Ser 1975
7
Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly.
Kazushi Aoto, Yayoi Shikata, Daisuke Higashiyama, Kohei Shiota, Jun Motoyama. Birth Defects Res A Clin Mol Teratol 2008
Kazushi Aoto, Yayoi Shikata, Daisuke Higashiyama, Kohei Shiota, Jun Motoyama. Birth Defects Res A Clin Mol Teratol 2008
9
Middle interhemispheric fusion: an unusual variant of holoprosencephaly.
A J Barkovich, D J Quint. AJNR Am J Neuroradiol 1993
A J Barkovich, D J Quint. AJNR Am J Neuroradiol 1993
7
Holoprosencephaly due to numeric chromosome abnormalities.
Benjamin D Solomon, Kenneth N Rosenbaum, Jeanne M Meck, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
Benjamin D Solomon, Kenneth N Rosenbaum, Jeanne M Meck, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
16
Mechanisms that underlie co-variation of the brain and face.
Ralph S Marcucio, Nathan M Young, Diane Hu, Benedikt Hallgrimsson. Genesis 2011
Ralph S Marcucio, Nathan M Young, Diane Hu, Benedikt Hallgrimsson. Genesis 2011
7
Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study.
Eric A Miller, Sonja A Rasmussen, Anna Maria Siega-Riz, Jaime L Frías, Margaret A Honein. Am J Med Genet C Semin Med Genet 2010
Eric A Miller, Sonja A Rasmussen, Anna Maria Siega-Riz, Jaime L Frías, Margaret A Honein. Am J Med Genet C Semin Med Genet 2010
15
A zone of frontonasal ectoderm regulates patterning and growth in the face.
Diane Hu, Ralph S Marcucio, Jill A Helms. Development 2003
Diane Hu, Ralph S Marcucio, Jill A Helms. Development 2003
7
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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Assessment of the deep gray nuclei in holoprosencephaly.
E M Simon, R Hevner, J D Pinter, N J Clegg, V S Miller, S L Kinsman, J S Hahn, A J Barkovich. AJNR Am J Neuroradiol 2000
E M Simon, R Hevner, J D Pinter, N J Clegg, V S Miller, S L Kinsman, J S Hahn, A J Barkovich. AJNR Am J Neuroradiol 2000
10
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
6
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
12
Genetics of ventral forebrain development and holoprosencephaly.
M Muenke, P A Beachy. Curr Opin Genet Dev 2000
M Muenke, P A Beachy. Curr Opin Genet Dev 2000
6
Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases.
H G K Blaas, A G Eriksson, K A Salvesen, C V Isaksen, B Christensen, G Møllerløkken, S H Eik-Nes. Ultrasound Obstet Gynecol 2002
H G K Blaas, A G Eriksson, K A Salvesen, C V Isaksen, B Christensen, G Møllerløkken, S H Eik-Nes. Ultrasound Obstet Gynecol 2002
9
Short-faced mice and developmental interactions between the brain and the face.
Julia C Boughner, Stephen Wat, Virginia M Diewert, Nathan M Young, Leon W Browder, Benedikt Hallgrímsson. J Anat 2008
Julia C Boughner, Stephen Wat, Virginia M Diewert, Nathan M Young, Leon W Browder, Benedikt Hallgrímsson. J Anat 2008
13
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