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



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
Times Cited: 235




List of shared articles



Times cited

Development of the Pituitary Gland.
Kyriaki S Alatzoglou, Louise C Gregory, Mehul T Dattani. Compr Physiol 2020
3

Hedgehog Signal and Genetic Disorders.
Noriaki Sasai, Michinori Toriyama, Toru Kondo. Front Genet 2019
30

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

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


Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism.
Sener Tasdemir, Ibrahim Sahin, Atilla Cayır, Hakan Doneray, Benjamin D Solomon, Maximilian Muenke, Ihsan Yuce, Abdulgani Tatar. J Pediatr Endocrinol Metab 2014
4

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

Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency.
Darya Gorbenko del Blanco, Laura C G de Graaff, Theo J Visser, Anita C S Hokken-Koelega. Clin Endocrinol (Oxf) 2013
5


NOTCH, a new signaling pathway implicated in holoprosencephaly.
Valérie Dupé, Lucie Rochard, Sandra Mercier, Yann Le Pétillon, Isabelle Gicquel, Claude Bendavid, Georges Bourrouillou, Usha Kini, Christel Thauvin-Robinet, Timothy P Bohan,[...]. Hum Mol Genet 2011
30

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

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
76

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

Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE).
Sandra Mercier, Christèle Dubourg, Marion Belleguic, Laurent Pasquier, Philippe Loget, Josette Lucas, Claude Bendavid, Sylvie Odent. Am J Med Genet C Semin Med Genet 2010
28

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

Clinical features and outcomes of holoprosencephaly in Korea.
Jung Min Ko, Sung Hwan Kim. Pediatr Neurol 2010
3

Holoprosencephaly: recommendations for diagnosis and management.
Emily F Kauvar, Maximilian Muenke. Curr Opin Pediatr 2010
28

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

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

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.
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

Holoprosencephaly: new models, new insights.
Robert S Krauss. Expert Rev Mol Med 2007
40

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

Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype.
Giselda Santiago, Dagma Venturini Marques Abramides, Luciana Paula Maximino De-Vitto, Lucilene Arilho Ribeiro, Silvio Garcia Meira, Antonio Richieri-Costa. Am J Med Genet A 2006
4

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.
David A Koolen, Jos Herbergs, Joris A Veltman, Rolph Pfundt, Hans van Bokhoven, Hans Stroink, Erik A Sistermans, Han G Brunner, Ad Geurts van Kessel, Bert B A de Vries. J Hum Genet 2006
16