A citation-based method for searching scientific literature

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: 115



K W Gripp, D Wotton, M C Edwards, E Roessler, L Ades, P Meinecke, A Richieri-Costa, E H Zackai, J Massagué, M Muenke, S J Elledge. Nat Genet 2000
Times Cited: 300




List of shared articles



Times cited

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.
Viviane Freitas de Castro, Daniel Mattos, Flavia Martinez de Carvalho, Denise Pontes Cavalcanti, Milagros M Duenas-Roque, Juan Llerena, Viviana Raquel Cosentino, Rachel Sayuri Honjo, Julio Cesar Loguercio Leite, Maria Teresa Sanseverino,[...]. Mol Syndromol 2021
0

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.
Ariel F Martinez, Paul S Kruszka, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
3

Molecular testing in holoprosencephaly.
Paul Kruszka, Ariel F Martinez, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
11

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
C Mouden, C Dubourg, W Carré, S Rose, C Quelin, L Akloul, H Hamdi-Rozé, G Viot, H Salhi, P Darnault,[...]. Clin Genet 2016
27

Molecular analysis of holoprosencephaly in South America.
Clarice Pagani Savastano, Kênia Balbi El-Jaick, Marcelo Aguiar Costa-Lima, Cristina Maria Batista Abath, Sebastiano Bianca, Denise Pontes Cavalcanti, Têmis Maria Félix, Gioacchino Scarano, Juan Clinton Llerena, Fernando Regla Vargas,[...]. Genet Mol Biol 2014
6

Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes.
Christina Tatsi, Amalia Sertedaki, Antonis Voutetakis, Eleni Valavani, Maria-Alexandra Magiakou, Christina Kanaka-Gantenbein, George P Chrousos, Catherine Dacou-Voutetakis. J Clin Endocrinol Metab 2013
35



Aberrant forebrain signaling during early development underlies the generation of holoprosencephaly and coloboma.
Patricia A Gongal, Curtis R French, Andrew J Waskiewicz. Biochim Biophys Acta 2011
17

Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.
Emily F Kauvar, Ping Hu, Daniel E Pineda-Alvarez, Benjamin D Solomon, Amalia Dutra, Evgenia Pak, Brooke Blessing, Virginia Proud, Alan L Shanske, Cathy A Stevens,[...]. Mol Genet Metab 2011
9

Cyclopia--literature review and a case report.
Anita Olejek, Piotr Bodzek, Marcin Skutil, Jacek Zamłyński, Piotr Stołtny. Ginekol Pol 2011
0

Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.
Claudia Danielli Pereira Bertolacini, Antonio Richieri-Costa, Lucilene Arilho Ribeiro-Bicudo. Brain Dev 2010
11

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
Jill A Rosenfeld, Blake C Ballif, Donna M Martin, Arthur S Aylsworth, Bassem A Bejjani, Beth S Torchia, Lisa G Shaffer. Hum Genet 2010
49

The molecular genetics of holoprosencephaly.
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
155

Holoprosencephaly: An update on cytogenetic abnormalities.
Claude Bendavid, Valérie Dupé, Lucie Rochard, Isabelle Gicquel, Christèle Dubourg, Véronique David. Am J Med Genet C Semin Med Genet 2010
35

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.
Daniel E Pineda-Alvarez, Christèle Dubourg, Véronique David, Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
46

Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.
Preeti Bakrania, Sibel A Ugur Iseri, Alexander W Wyatt, Dave J Bunyan, Wayne W K Lam, Alison Salt, Jacqueline Ramsay, David O Robinson, Nicola K Ragge. Am J Med Genet A 2010
24

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
Aimée D C Paulussen, Constance T Schrander-Stumpel, Demis C J Tserpelis, Matteus K M Spee, Alexander P A Stegmann, Grazia M Mancini, Alice S Brooks, Margriet Collée, Anneke Maat-Kievit, Marleen E H Simon,[...]. Eur J Hum Genet 2010
32

Hedgehog signaling update.
M Michael Cohen. Am J Med Genet A 2010
77

Etiopathogenetic advances and management of holoprosencephaly: from bench to bedside.
S Bellone, F De Rienzo, F Prodam, S Savastio, A Busti, G Genoni, G Aimaretti, G Bona. Panminerva Med 2010
7

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
49

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
65

A novel SIX3 mutation segregates with holoprosencephaly in a large family.
Benjamin D Solomon, Felicitas Lacbawan, Mahim Jain, Sabina Domené, Erich Roessler, Cynthia Moore, William B Dobyns, Maximilian Muenke. Am J Med Genet A 2009
30

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.
Claude Bendavid, Lucie Rochard, Christèle Dubourg, Jonathan Seguin, Isabelle Gicquel, Laurent Pasquier, Jaqueline Vigneron, Annie Laquerrière, Pascale Marcorelles, Corinne Jeanne-Pasquier,[...]. Hum Mutat 2009
35

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
62

Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder.
Maria Leine Guion-Almeida, Antonio Richieri-Costa, Roseli Maria Zechi-Ceide. Clin Dysmorphol 2008
3



Holoprosencephaly.
Jin S Hahn. Handb Clin Neurol 2008
2

Holoprosencephaly.
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David. Orphanet J Rare Dis 2007
221

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
27

Molecular changes associated with teratogen-induced cyclopia.
Evyn J Loucks, Tyler Schwend, Sara C Ahlgren. Birth Defects Res A Clin Mol Teratol 2007
31

MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly.
Claude Bendavid, Christèle Dubourg, Laurent Pasquier, Isabelle Gicquel, Simon Le Gallou, Stéphanie Mottier, Marie-Renée Durou, Catherine Henry, Sylvie Odent, Véronique David. Hum Mutat 2007
21

Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.
Marie-France Portnoï, Nicolas Gruchy, Sandrine Marlin, Lina Finkel, Françoise Denoyelle, Christèle Dubourg, Sylvie Odent, Jean-Pierre Siffroi, Yves Le Bouc, Muriel Houang. Clin Dysmorphol 2007
34

Histogenesis of retinal dysplasia in trisomy 13.
Ada Chan, Satyan Lakshminrusimha, Reid Heffner, Federico Gonzalez-Fernandez. Diagn Pathol 2007
18

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
36

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
43

A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease.
Ming Chen, Shou-Jen Kuo, Chin-San Liu, Wei-Liang Chen, Tsang-Ming Ko, Tze-Ho Chen, Shun-Ping Chang, Chien-Hao Huang, Yih-Yuan Chang, Bao-Tyan Wang. Prenat Diagn 2006
10

Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array-based CGH.
Jia Huang, Jodi D Hoffman, Yi Zhang, Melissa K Maisenbacher, Elaine H Zackai, Barbara L Weber, Jeffrey E Ming. Clin Genet 2006
1