Ariel F Martinez, Paul S Kruszka, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
Times Cited: 3
Times Cited: 3
Times Cited
Times Co-cited
Similarity
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Benjamin D Solomon, Kelly A Bear, Adrian Wyllie, Amelia A Keaton, Christele Dubourg, Veronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimee Paulussen,[...]. J Med Genet 2012
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100
Cohesin complex-associated holoprosencephaly.
Paul Kruszka, Seth I Berger, Valentina Casa, Mike R Dekker, Jenna Gaesser, Karin Weiss, Ariel F Martinez, David R Murdock, Raymond J Louie, Eloise J Prijoles,[...]. Brain 2019
Paul Kruszka, Seth I Berger, Valentina Casa, Mike R Dekker, Jenna Gaesser, Karin Weiss, Ariel F Martinez, David R Murdock, Raymond J Louie, Eloise J Prijoles,[...]. Brain 2019
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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
66
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
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Recent advances in understanding inheritance of holoprosencephaly.
Christèle Dubourg, Artem Kim, Erwan Watrin, Marie de Tayrac, Sylvie Odent, Véronique David, Valérie Dupé. Am J Med Genet C Semin Med Genet 2018
Christèle Dubourg, Artem Kim, Erwan Watrin, Marie de Tayrac, Sylvie Odent, Véronique David, Valérie Dupé. Am J Med Genet C Semin Med Genet 2018
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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
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Holoprosencephaly.
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David. Orphanet J Rare Dis 2007
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Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling.
Erich Roessler, Ping Hu, Juliana Marino, Sungkook Hong, Rachel Hart, Seth Berger, Ariel Martinez, Yu Abe, Paul Kruszka, James W Thomas,[...]. Hum Mutat 2018
Erich Roessler, Ping Hu, Juliana Marino, Sungkook Hong, Rachel Hart, Seth Berger, Ariel Martinez, Yu Abe, Paul Kruszka, James W Thomas,[...]. Hum Mutat 2018
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Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.
Hiromi Aoi, Ming Lei, Takeshi Mizuguchi, Nobuko Nishioka, Tomohide Goto, Sahoko Miyama, Toshifumi Suzuki, Kazuhiro Iwama, Yuri Uchiyama, Satomi Mitsuhashi,[...]. J Hum Genet 2019
Hiromi Aoi, Ming Lei, Takeshi Mizuguchi, Nobuko Nishioka, Tomohide Goto, Sahoko Miyama, Toshifumi Suzuki, Kazuhiro Iwama, Yuri Uchiyama, Satomi Mitsuhashi,[...]. J Hum Genet 2019
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Congenital heart defects in molecularly proven Kabuki syndrome patients.
Maria Cristina Digilio, Maria Gnazzo, Francesca Lepri, Maria Lisa Dentici, Elisa Pisaneschi, Anwar Baban, Chiara Passarelli, Rossella Capolino, Adriano Angioni, Antonio Novelli,[...]. Am J Med Genet A 2017
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A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.
Paul Kruszka, Seth I Berger, Karin Weiss, Joshua L Everson, Ariel F Martinez, Sungkook Hong, Kwame Anyane-Yeboa, Robert J Lipinski, Maximilian Muenke. Am J Hum Genet 2019
Paul Kruszka, Seth I Berger, Karin Weiss, Joshua L Everson, Ariel F Martinez, Sungkook Hong, Kwame Anyane-Yeboa, Robert J Lipinski, Maximilian Muenke. Am J Hum Genet 2019
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Novel heterozygous variants in KMT2D associated with holoprosencephaly.
Cedrik Tekendo-Ngongang, Paul Kruszka, Ariel F Martinez, Maximilian Muenke. Clin Genet 2019
Cedrik Tekendo-Ngongang, Paul Kruszka, Ariel F Martinez, Maximilian Muenke. Clin Genet 2019
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Sonic hedgehog is required for cardiac outflow tract and neural crest cell development.
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Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos.
Yu Abe, Paul Kruszka, Ariel F Martinez, Erich Roessler, Kohei Shiota, Shigehito Yamada, Maximilian Muenke. Anat Rec (Hoboken) 2018
Yu Abe, Paul Kruszka, Ariel F Martinez, Erich Roessler, Kohei Shiota, Shigehito Yamada, Maximilian Muenke. Anat Rec (Hoboken) 2018
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Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
Erich Roessler, Wuhong Pei, Maia V Ouspenskaia, Jayaprakash D Karkera, Jorge Ivan Veléz, Sharmilla Banerjee-Basu, Gretchen Gibney, Philip J Lupo, Laura E Mitchell, Jeffrey A Towbin,[...]. Mol Genet Metab 2009
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Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.
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The incidence of congenital heart disease.
Julien I E Hoffman, Samuel Kaplan. J Am Coll Cardiol 2002
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Holoprosencephaly: recommendations for diagnosis and management.
Emily F Kauvar, Maximilian Muenke. Curr Opin Pediatr 2010
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Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
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Multiple left-right asymmetry defects in Shh(-/-) mutant mice unveil a convergence of the shh and retinoic acid pathways in the control of Lefty-1.
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The Zic2 gene directs the formation and function of node cilia to control cardiac situs.
Kristen S Barratt, Hannah C Glanville-Jones, Ruth M Arkell. Genesis 2014
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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
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Syndromes associated with holoprosencephaly.
Paul Kruszka, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
Paul Kruszka, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
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Molecular cloning and characterization of a novel phospholipase C, PLC-eta.
Jong-Ik Hwang, Yong-Seok Oh, Kum-Joo Shin, Hyun Kim, Sung Ho Ryu, Pann-Ghill Suh. Biochem J 2005
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Phospholipase C-eta enzymes as putative protein kinase C and Ca2+ signalling components in neuronal and neuroendocrine tissues.
Alan J Stewart, Kevin Morgan, Colin Farquharson, Robert P Millar. Neuroendocrinology 2007
Alan J Stewart, Kevin Morgan, Colin Farquharson, Robert P Millar. Neuroendocrinology 2007
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Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome.
R M Azurdia, A V Anstey, L E Rhodes. Br J Dermatol 2001
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Hereditary chronic pancreatitis.
Jonas Rosendahl, Hans Bödeker, Joachim Mössner, Niels Teich. Orphanet J Rare Dis 2007
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Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.
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Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes.
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Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.
Kenichiro Taniguchi, Anoush E Anderson, Ann E Sutherland, David Wotton. PLoS Genet 2012
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Embryogenesis of holoprosencephaly.
Kohei Shiota, Shigehito Yamada, Munekazu Komada, Makoto Ishibashi. Am J Med Genet A 2007
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Intracellular Calcium Mobilization Is Required for Sonic Hedgehog Signaling.
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High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly.
B D Solomon, D E Pineda-Alvarez, A L Gropman, M J Willis, D W Hadley, M Muenke. Mol Syndromol 2012
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Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype.
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Mechanisms of vertebrate embryo segmentation: Common themes in trunk and limb development.
Caroline J Sheeba, Raquel P Andrade, Isabel Palmeirim. Semin Cell Dev Biol 2016
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A developmental and genetic classification for malformations of cortical development: update 2012.
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Transcriptional landscape of the prenatal human brain.
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Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.
Sophia M Bous, Benjamin D Solomon, Luitgard Graul-Neumann, Heidemarie Neitzel, Emily E Hardisty, Maximilian Muenke. Clin Dysmorphol 2012
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Duplication of the ZIC2 gene is not associated with holoprosencephaly.
Vaidehi Jobanputra, Alanna Burke, Anyane-Yeboa Kwame, Anita Shanmugham, Maryam Shirazi, Stephen Brown, Peter E Warburton, Brynn Levy, Dorothy Warburton. Am J Med Genet A 2012
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Proteomics of Primary Cilia by Proximity Labeling.
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Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly.
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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
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Functional SNP allele discovery (fSNPd): an approach to find highly penetrant, environmental-triggered genotypes underlying complex human phenotypes.
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Alobar holoprosencephaly with cyclopia - autopsy-based observations from one medical center.
Jarosław Swatek, Justyna Szumiło, Franciszek Burdan. Reprod Toxicol 2013
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The structure of SHH in complex with HHIP reveals a recognition role for the Shh pseudo active site in signaling.
Ivan Bosanac, Henry R Maun, Suzie J Scales, Xiaohui Wen, Andreas Lingel, J Fernando Bazan, Frederic J de Sauvage, Sarah G Hymowitz, Robert A Lazarus. Nat Struct Mol Biol 2009
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Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Artem Kim, Clara Savary, Christèle Dubourg, Wilfrid Carré, Charlotte Mouden, Houda Hamdi-Rozé, Hélène Guyodo, Jerome Le Douce, Laurent Pasquier, Elisabeth Flori,[...]. Brain 2019
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SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor.
Kenia Balbi El-Jaick, Decio Brunoni, Eduardo E Castilla, Miguel Angelo Moreira, Iêda Mario Orioli. Am J Med Genet A 2005
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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.