| Organotypic 3D Cellular Models Mimicking the Epithelio-Ectomesenchymal Bilayer During Odontogenesis. | Jerbaka F, Gribova V, Rey T, Elfaloussi S, Kawczynski M, Kharouf N, Herault Y, Arntz Y, Bloch-Zupan A, Bugueno IM | 2024-09-30 | ameloblasts, dental structure anomalies, odontoblasts, organoids, rare diseases | Tissue engineering. Part A |
| Orofacial Manifestations of Kindler Epidermolysis Bullosa-Reply. | Krämer S, Bloch-Zupan A, Has C | 2024-09-04 | | JAMA dermatology |
| Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations. | Bugueno IM, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N, Manière MC, Herault Y, Bloch-Zupan A, Haushalter-Laugel V | 2024-09-01 | | Genes & diseases |
| Prevalence of tooth agenesis and supernumerary teeth related to different Thai cleft lip and cleft palate populations. | Aung WP, Pungchanchaikul P, Pisek A, Bloch-Zupan A, Morkmued S | 2024-08-17 | Cleft lip and cleft palate, Cleft sidedness, Dentofacial deformity, Supernumerary teeth, Tooth agenesis code (TAC) | BMC oral health |
| i-Dent: A virtual assistant to diagnose rare genetic dental diseases. | Kadi H, Kawczynski M, Bendjama S, Flores JZ, Leong-Hoi A, de Lastic H, Balbierer J, Mabileau C, Radoux JP, Grollemund B, Jaegle J, Guebert C, Bisch B, Bloch-Zupan A | 2024-08-02 | Deep learning, Dental age assessment, Mask R–CNN, Medical diagnosis, Panoramic radiograph processing, Rare genetic diseases, Teeth segmentation, U-Net | Computers in biology and medicine |
| [Forehead in craniosynostoses]. | Arnaud E, Khonsari RH, James S, Paternoster G | 2024-07-29 | Avancée fronto-orbitaire, Avancée frontofaciale, Chirurgie secondaire, Craniosténose, Craniosynostosis, Esthetic sequellae, Fat grafting, Fronto-facial advancement, Fronto-orbital advancement, Lipofilling, Secondary surgery, Séquelle esthétique | Annales de chirurgie plastique et esthetique |
| Orofacial Anomalies in Kindler Epidermolysis Bullosa. | Krämer S, Hillebrecht AL, Wang Y, Badea MA, Barrios JI, Danescu S, Fuentes I, Kartal D, Klausegger A, Ponce de León E, Schilke R, Yordanova I, Bloch-Zupan A, Has C | 2024-03-20 | | JAMA dermatology |
| The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome. | Jimenez-Armijo A, Morkmued S, Ahumada JT, Kharouf N, de Feraudy Y, Gogl G, Riet F, Niederreither K, Laporte J, Birling MC, Selloum M, Herault Y, Hernandez M, Bloch-Zupan A | 2024-01-03 | | Scientific reports |
| Guideline on Treatment and Management of Craniosynostosis: Patient and Family Version. | Faasse M, Mathijssen IMJ | 2024-01-01 | | The Journal of craniofacial surgery |
| Objective quantitative methods to evaluate microtia reconstruction: A scoping review. | Lin Y, Ronde EM, van den Brule KEJ, Lachkar N, van Etten-Jamaludin FS, Smit TH, Breugem CC | 2023-12-01 | Microtia, Objective evaluation, Systematic review | JPRAS open |
| Guidance to develop a multidisciplinary, international, pediatric registry: a systematic review. | Ombashi S, van der Goes PAJ, Versnel SL, Khonsari RH, van der Molen AEM | 2023-09-21 | | Orphanet journal of rare diseases |
| Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis. | Ertl DA, Mantovani G, de Nanclares GP, Elli FM, Pereda A, Pagnano A, Sanchis A, Cueto-Gonzalez AM, Berrade S, León MC, Rothenbuhler A, Audrain C, Berkenou J, Knight N, Dolman K, Gleiss A, Argente J, Linglart A | 2023-08-01 | Acrodysostosis, Auxology, Inactivating PTH/PTHrP signaling disorders, Pediatric, Recombinant human growth hormone, SGA, Short stature | Journal of endocrinological investigation |
| Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing? | Maas SM, Krzyzewska IM, Lombardi MPR, Mannens MMA, Vos N, Bliek J | 2023-06-01 | | European journal of human genetics : EJHG |
| Primary failure of eruption: From molecular diagnosis to therapeutic management. | Wagner D, Rey T, Maniere MC, Dubourg S, Bloch-Zupan A, Strub M | 2023-03-01 | Case report, PTH1R gene, Primary failure of eruption, Tooth resorption | Journal of oral biology and craniofacial research |
| French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformations. | Leboulanger N, Bisdorff A, Boccara O, Dompmartin A, Guibaud L, Labreze C, Lagier J, Lebrun-Vignes B, Herbreteau D, Joly A, Malloizel-Delaunay J, Martel A, Munck S, Saint-Aubin F, Maruani A | 2023-01-13 | Complications, Cystic lymphatic malformations, Treatment, Vascular anomalies | Orphanet journal of rare diseases |
| Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification. | Bloch-Zupan A, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N, Dure-Molla M, Noirrit E, Hernandez M, Joseph-Beaudin C, Lopez S, Tardieu C, Thivichon-Prince B, Dostalova T, Macek M, Alloussi ME, Qebibo L, Morkmued S, Pungchanchaikul P, Orellana BU, Manière MC, Gérard B, Bugueno IM, Laugel-Haushalter V | 2023-01-01 | NGS, amelogenesis imperfecta, enamel, genetics, next-generation sequencing, rare diseases | Frontiers in physiology |
| Correspondence on "Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype" by Zanoni et al. | Cueto-González AM, Fernández-Álvarez P, Palafoll IV, Lasa-Aranzasti A, Vendrell Bayona T, Tizzano EF | 2022-03-01 | | Genetics in medicine : official journal of the American College of Medical Genetics |
| Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype. | Santos-Simarro F, Pacio M, Cueto-González AM, Mansilla E, Valenzuela-Palafoll MI, López-Grondona F, Lledín MD, Schuffelmann C, Del Pozo Á, Solis M, Vallcorba P, Lapunzina P, Menéndez Suso JJ, Siccha SM, Montejo JM, Mena R, Jiménez-Rodríguez C, García-Miñaúr S, Palomares-Bralo M | 2021-11-01 | CEP57, Cancer predisposition, Cardiovascular malformations, Growth retardation, MVA2 | European journal of medical genetics |
| Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype. | El Chehadeh S, Legrand A, Stoetzel C, Geoffroy V, Billon C, Adham S, Jeunemaître X, Jaussaud R, Muller J, Schaefer E, Benistan K, Gaertner S, Bloch-Zupan A, Courval A, Manière MC, Petit C, Bursztejn AC, Bal L, Reyre A, Chammas A, Busa T, Dollfus H, Lipsker D | 2021-08-01 | Ehlers-Danlos syndrome periodontal type, Ehlers-Danlos syndrome type VIII, aneurysm, aortic dissection, persistent ulcers, tooth loss, vascular complications, venous insufficiency | Clinical genetics |
| Craniosynostosis: Monobloc Distraction with Internal Device and Its Variant for Infants with Severe Syndromic Craniosynostosis. | Paternoster G, Haber SE, Khonsari RH, James S, Arnaud E | 2021-07-01 | Craniofacial dysostosis, Distraction osteogenesis, Exorbitism, Faciocraniosynostosis, Frontofacial monobloc advancement, Sleep apnea, Syndromic craniosynostosis, Tracheostomy | Clinics in plastic surgery |
| European Reference Networks: challenges and opportunities. | Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H, Hoogerbrugge N | 2021-04-01 | | Journal of community genetics |
| Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature. | Siccha SM, Cueto AM, Parrón-Pajares M, González-Morán G, Pacio-Miguez M, Del Pozo Á, Solís M, Rodriguez-Jimenez C, Caino S, Fano V, Heath KE, García-Miñaúr S, Palomares-Bralo M, Santos-Simarro F | 2021-03-01 | LIFR, Stuve-Wiedemann syndrome, dysautonomia, skeletal abnormalities | American journal of medical genetics. Part A |
| Deficiency of the SMOC2 matricellular protein impairs bone healing and produces age-dependent bone loss. | Morkmued S, Clauss F, Schuhbaur B, Fraulob V, Mathieu E, Hemmerlé J, Clevers H, Koo BK, Dollé P, Bloch-Zupan A, Niederreither K | 2020-09-09 | | Scientific reports |
| Characteristic dental pattern with hypodontia and short roots in Fraser syndrome. | Kunz F, Kayserili H, Midro A, de Silva D, Basnayake S, Güven Y, Borys J, Schanze D, Stellzig-Eisenhauer A, Bloch-Zupan A, Zenker M | 2020-07-01 | Fraser syndrome, dental roots, hypodontia, orodental health, taurodontism | American journal of medical genetics. Part A |
| Heimler Syndrome. | Mechaussier S, Perrault I, Dollfus H, Bloch-Zupan A, Loundon N, Jonard L, Marlin S | 2020-01-01 | Amelogenesis imperfecta, Hearing loss, Heimler syndrome, PEX1–PEX6, Retinal dystrophy | Advances in experimental medicine and biology |
| Apert syndrome: Cranial procedures and brain malformations in a series of patients. | Munarriz PM, Pascual B, Castaño-Leon AM, García-Recuero I, Redondo M, de Aragón AM, Romance A | 2020-01-01 | Apert syndrome, Craniosynostosis, Fronto-orbital advancement, Hydrocephalus, Monobloc advancement | Surgical neurology international |
| Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient. | Cueto-González AM, Fernández-Cancio M, Fernández-Alvarez P, García-Arumí E, Tizzano EF | 2020-01-01 | Genetics research, Neurological disorders | Human genome variation |
| Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders. | de La Dure-Molla M, Fournier BP, Manzanares MC, Acevedo AC, Hennekam RC, Friedlander L, Boy-Lefèvre ML, Kerner S, Toupenay S, Garrec P, Vi-Fane B, Felizardo R, Berteretche MV, Jordan L, Ferré F, Clauss F, Jung S, de Chalendar M, Troester S, Kawczynski M, Chaloyard J, Manière MC, Berdal A, Bloch-Zupan A | 2019-10-01 | Anatomy and Histology, Classification, Craniofacial abnormalities, Rare diseases, Terminology, Tooth abnormalities | American journal of medical genetics. Part A |
| Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. | Wehrle A, Witkos TM, Unger S, Schneider J, Follit JA, Hermann J, Welting T, Fano V, Hietala M, Vatanavicharn N, Schoner K, Spranger J, Schmidts M, Zabel B, Pazour GJ, Bloch-Zupan A, Nishimura G, Superti-Furga A, Lowe M, Lausch E | 2019-02-07 | Bone Biology, Bone development, Genetics, Molecular pathology, Protein traffic | JCI insight |
| A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta. | Laugel-Haushalter V, Bär S, Schaefer E, Stoetzel C, Geoffroy V, Alembik Y, Kharouf N, Huckert M, Hamm P, Hemmerlé J, Manière MC, Friant S, Dollfus H, Bloch-Zupan A | 2019-01-01 | NGS (next generation sequencing), amelogenesis imperfecta, human, rare diseases, skeletal dysplasia | Frontiers in genetics |
| Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning. | Laugel-Haushalter V, Morkmued S, Stoetzel C, Geoffroy V, Muller J, Boland A, Deleuze JF, Chennen K, Pitiphat W, Dollfus H, Niederreither K, Bloch-Zupan A, Pungchanchaikul P | 2018-01-01 | NGS, calcium ion channel, dental anomalies, human, mutations, patterning, rare disease | Frontiers in physiology |
