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Pierquin Geneviève

See author's contact details
Main Referenced Co-authors
Bours, Vincent  (9)
Bulk, Saskia  (7)
Riviere, Jean-Baptiste (6)
Faivre, Laurence (5)
Segers, Karin  (5)
Main Referenced Keywords
Female (5); Humans (5); Adolescent (4); Male (4); Infant (3);
Main Referenced Disciplines
Genetics & genetic processes (30)
Pediatrics (2)
Biotechnology (1)
Microbiology (1)

Publications (total 32)

The most downloaded
6088 downloads
Mutesa, L., Pierquin, G., Cwiny-Ay, N., Buzizi, P., & Bours, V. (March 2007). Le syndrome de Hutchinson-Gilford (progeria): analyse clinique et moleculaire chez une patiente d'origine africaine. Revue Médicale de Liège, 62 (3), 155-8. https://hdl.handle.net/2268/83969

The most cited

138 citations (OpenAlex)

Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., PIERQUIN, G., Biver, A., Wagner, K., Malfroot, A., Panigrahi, I., Franco, B., Al-Lami, H. A., ... Wallingford, J. B. (2016). The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nature Genetics, 48 (6), 648-56. doi:10.1038/ng.3558 https://hdl.handle.net/2268/206533

HARVENGT, J., Schierloh, U., BULK, S., & PIERQUIN, G. (16 February 2018). Post axial polydactyly : isolated symptom or part of a syndrome. A case of BBS8 with two novel molecular anomalies [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium.

Lefebvre, M., Dieux-Coeslier, A., Baujat, G., Schaefer, E., Judith, S.-O., Bazin, A., Pinson, L., Attie-Bitach, T., Baumann, C., Fradin, M., PIERQUIN, G., Julia, S., Quelin, C., Doray, B., Berg, S., Vincent-Delorme, C., Lambert, L., Bachmann, N., Lacombe, D., ... Thevenon, J. (2018). Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. Journal of Medical Genetics, 55 (6), 422-429. doi:10.1136/jmedgenet-2017-104939
Peer Reviewed verified by ORBi

PIERQUIN, G., & BULK, S. (January 2018). Pseudarthose de l'avant-bras chez une patiente atteinte de neurofibromatose [Poster presentation]. 9ème Assises de Génétique Humaine et Médicale, Nantes, France.

Van Damme, T., Pang, X., Guillemyn, B., Gulberti, S., Syx, D., De Rycke, R., Kaye, O., de Die-Smulders, C. E. M., Pfundt, R., Kariminejad, A., Nampoothiri, S., PIERQUIN, G., BULK, S., Larson, A. A., Chatfield, K. C., Simon, M., Legrand, A., Gerard, M., Symoens, S., ... Malfait, F. (2018). Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. Human Molecular Genetics, 27 (20), 3475-3487. doi:10.1093/hmg/ddy234
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Letard, P., Drunat, S., Vial, Y., Duerinckx, S., Ernault, A., Amram, D., Arpin, S., Bertoli, M., Busa, T., Ceulemans, B., Desir, J., Doco-Fenzy, M., Elalaoui, S. C., Devriendt, K., Faivre, L., Francannet, C., Genevieve, D., Gerard, M., Gitiaux, C., ... Passemard, S. (2018). Autosomal recessive primary microcephaly due to ASPM mutations: An update. Human Mutation. doi:10.1002/humu.23381
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Bruel, A.-L., Franco, B., Duffourd, Y., Thevenon, J., Jego, L., Lopez, E., Deleuze, J.-F., Doummar, D., Giles, R. H., Johnson, C. A., Huynen, M. A., Chevrier, V., Burglen, L., Morleo, M., Desguerres, I., PIERQUIN, G., Doray, B., Gilbert-Dussardier, B., Reversade, B., ... Thauvin-Robinet, C. (2017). Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics, 54 (6), 371-380. doi:10.1136/jmedgenet-2016-104436
Peer Reviewed verified by ORBi

BULK, S., & PIERQUIN, G. (04 February 2016). Dysmorphology Quiz [Paper presentation]. Dysmorphology Meeting.

PIERQUIN, G. (04 February 2016). A family with a split hand malformation [Paper presentation]. Dysmorphology Meeting.

PIERQUIN, G., CABERG, J.-H., & BULK, S. (03 February 2016). Microdélétions et duplications 22q11.22 distales [Poster presentation]. 8èmes Assises de Génétique Humaine et Médicale, Lyon, France.

Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., PIERQUIN, G., Biver, A., Wagner, K., Malfroot, A., Panigrahi, I., Franco, B., Al-Lami, H. A., ... Wallingford, J. B. (2016). The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nature Genetics, 48 (6), 648-56. doi:10.1038/ng.3558
Peer Reviewed verified by ORBi

Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., PIERQUIN, G., Biver, A., Wagner, K., Malfroot, A., Panigrahi, I., Franco, B., Al-Lami, H. A., ... Wallingford, J. B. (2016). Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nature Genetics, 48 (8), 970. doi:10.1038/ng0816-970b
Peer Reviewed verified by ORBi

Lefebvre, M., Duffourd, Y., Jouan, T., Poe, C., Jean-Marcais, N., Verloes, A., St-Onge, J., Riviere, J.-B., Petit, F., PIERQUIN, G., Demeer, B., Callier, P., Thauvin-Robinet, C., Faivre, L., & Thevenon, J. (2016). Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. Clinical Genetics. doi:10.1111/cge.12918
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Saleh, C., PIERQUIN, G., & Beyenburg, S. (2016). Hemiplegic Migraine Presenting with Prolonged Somnolence: A Case Report. Case Reports in Neurology, 8 (3), 204-210. doi:10.1159/000448473
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Vincent, M., Genevieve, D., Ostertag, A., Marlin, S., Lacombe, D., Martin-Coignard, D., Coubes, C., David, A., Lyonnet, S., Vilain, C., Dieux-Coeslier, A., Manouvrier, S., Isidor, B., Jacquemont, M.-L., Julia, S., Layet, V., Naudion, S., Odent, S., Pasquier, L., ... Collet, C. (2016). Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genetics in Medicine, 18 (1), 49-56. doi:10.1038/gim.2015.29
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Uwineza, A., BULK, S., CABERG, J.-H., & PIERQUIN, G. (06 March 2015). A new case of microdeletion 14q32.3 [Poster presentation]. 15th Belgium Society of Human Genetics Meeting, Charleroi, Belgium.

BULK, S., PIERQUIN, G., GAILLEZ, S., GATOT, J.-S., CABERG, J.-H., & Bours, V. (07 February 2014). Evaluation of the distal 22q11 deletion syndrome. A highly variable phenotype [Poster presentation]. 14th Belgium Society of Human Genetics Meeting.

Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Megarbane, A., Gauthier, S., Capra, V., PIERQUIN, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A. F., Boralevi, F., Gonzalez-Ensenat, M. A., Rio, M., Bodemer, C., ... Thauvin-Robinet, C. (2014). Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. Clinical Genetics. doi:10.1111/cge.12361
Peer Reviewed verified by ORBi

SEGERS, K., PIERQUIN, G., GAILLEZ, S., Delbecque, K., Retz, M., Tebache, M., Waterham, H., Wanders, R., Ferdinandusse, S., & DEBRAY, F.-G. (2013). Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses. Prenatal Diagnosis, 33 (2), 201-3. doi:10.1002/pd.4038
Peer Reviewed verified by ORBi

Uwineza, A., PIERQUIN, G., GAILLEZ, S., JAMAR, M., CABERG, J.-H., & BOURS, V. (2013). Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13. Genetic Counseling, 24 (2), 193-200.
Peer Reviewed verified by ORBi

Mutesa, L., JAMAR, M., PIERQUIN, G., & BOURS, V. (2012). A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation. Indian Journal of Human Genetics, 18 (3), 352-5. doi:10.4103/0971-6866.108033
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Genin, A., Desir, J., Lambert, N., Biervliet, M., Van Der Aa, N., PIERQUIN, G., Killian, A., Tosi, M., Urbina, M., Lefort, A., Libert, F., Pirson, I., & Abramowicz, M. (2012). Kinetochore KMN network gene CASC5 mutated in primary microcephaly. Human Molecular Genetics, 21 (24), 5306-17. doi:10.1093/hmg/dds386
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Desmyter, L., Ghassibe, M., Revencu, N., Boute, O., Lees, M., Francois, G., Verellen-Dumoulin, C., Sznajer, Y., Moncla, A., Benateau, H., Claes, K., Devriendt, K., Mathieu, M., Van Maldergem, L., Addor, M. C., Drouin-Garraud, V., Mortier, G., Bouma, M., Dieux-Coeslier, A., ... Vikkula, M. (2010). IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. Molecular Syndromology, 1 (2), 67-74. doi:10.1159/000313786
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D'haene, B., Nevado, J., Pugeat, M., Pierquin, G., Lowry, R. B., Reardon, W., Delicado, A., Garcia-Minaur, S., Palomares, M., Courtens, W., Stefanova, M., Wallace, S., Watkins, W., Shelling, A. N., Wieczorek, D., Veitia, R. A., De Paepe, A., Lapunzina, P., & De Baere, E. (2010). FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions. Human Mutation, 31 (5), 1332-47. doi:10.1002/humu.21233
Peer Reviewed verified by ORBi

Mutesa, L., Vanbellinghen, J.-F., Hellin, A.-C., Segers, K., Jamar, M., Pierquin, G., & Bours, V. (2009). Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome. Genetic Counseling, 20 (1), 9-17.
Peer Reviewed verified by ORBi

Mutesa, L., Pierquin, G., Segers, K., Vanbellinghen, J.-F., Gahimbare, L., & Bours, V. (2008). Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis. Journal of Tropical Pediatrics, 54 (5), 350-2. doi:10.1093/tropej/fmn034
Peer Reviewed verified by ORBi

Mutesa, L., Pierquin, G., Janin, N., Segers, K., Thomee, C., Provenzi, M., & Bours, V. (2008). Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors. Cancer Genetics and Cytogenetics, 182 (1), 40-2. doi:10.1016/j.cancergencyto.2007.12.005
Peer Reviewed verified by ORBi

Mutesa, L., Muganga, N., Lissens, W., Boemer, F., Schoos, R., Pierquin, G., & Bours, V. (December 2007). Molecular Analysis in Two Siblings African Patients with Severe Form of Hunter Syndrome: Identification of a Novel (P.Y54x) Nonsense Mutation. Journal of Tropical Pediatrics, 53 (6), 434-7. doi:10.1093/tropej/fmm056
Peer Reviewed verified by ORBi

Mutesa, L., Pierquin, G., Cwiny-Ay, N., Buzizi, P., & Bours, V. (March 2007). Le syndrome de Hutchinson-Gilford (progeria): analyse clinique et moleculaire chez une patiente d'origine africaine. Revue Médicale de Liège, 62 (3), 155-8.
Peer reviewed

Mutesa, L., Hellin, A.-C., Jamar, M., Pierquin, G., Bours, V., & Verloes, A. (2007). Precocious puberty associated with partial trisomy 18q and monosomy 11q. Genetic Counseling, 18 (2), 201-207.
Peer Reviewed verified by ORBi

Herens, C., Pierquin, G., Verloes, A., Schaaps, J.-P., & Frederic, J. (May 1989). Mosaicism of 46,Xx/47,Xx,+9/47,Xx,+?Mar in the Same Amniotic Fluid with Apparent Loss of One Cell Line after Delivery. Prenatal Diagnosis, 9 (5), 373-5. doi:10.1002/pd.1970090513
Peer Reviewed verified by ORBi

Pierquin, G., Vliers, A., & Dodinval, P. (December 1988). La sténose aortique supravalvulaire forme dominante autosomique de cardiopathie congénitale. Journal de Génétique Humaine, 36 (5), 485-9.
Peer Reviewed verified by ORBi

Pierquin, G., Herens, C., Dodinval, P., Frederic, J., Weber, I., Senterre, J., & Fryns, J. P. (May 1988). Partial Trisomy 20q Due to Paternal T(8;20) Translocation. Case Report and Review of the Literature. Clinical Genetics, 33 (5), 386-9. doi:10.1111/j.1399-0004.1988.tb03466.x
Peer Reviewed verified by ORBi

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