ERN BOND

Rare bone diseases encompass disorders of bone formation, modelling, remodelling and removal, and defects of the regulatory pathways of these processes. They result in short stature, bone deformity, teeth anom- alies, pain, fractures and disability, and can adversely influence neuromuscular function and haemopoiesis.

ERN BOND brings together all rare bone diseases — congenital, chronic and of genetic origin — that affect cartilage, bones and dentin. The network is focusing initially on osteogenesis imperfecta (OI), X-linked hypophosphataemic rickets (XLH) and achondroplasia (ACH) as exemplars, based on disease prevalence, diagnostic and man- agement difficulty and novel emergent ther- apy, before moving on to rarer diseases when systematic approaches are established.

Working with patients, BOND will develop patient-reported outcome and experience measures. The network will develop guidelines, leading to the development and dissemina- tion of best practice. As new therapeutics are developed, the network will work to ensure rapid access to studies for affected patients.

BOND will enable skill development through eHealth and telemedicine platforms, along- side working visits, training courses and dissemination activities. The network aims to reduce time to diagnosis with fewer inap- propriate tests, more accurate diagnosis and new viable treatments to be available within 2 to 3 years.

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Publications

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TitleAuthorsDateKeywordsIssue name
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.Fredwall S, AlSayed M, Ben-Omran T, Boero S, Cormier-Daire V, Fauroux B, Guillén-Navarro E, Innig F, Kunkel P, Lampe C, Maghnie M, Mohnike K, Mortier G, Pejin Z, Sessa M, Sousa SB, Irving M2024-05-15Achondroplasia, Adult, Assessment, Checklist, EAF, Follow-up, Sleep apnoea, Spinal stenosis, TransitionAdvances in therapy
Project SATURN- a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies.Sangiorgi L, Boarini M, Westerheim I, Skarberg RT, Clancy J, Wang V, Mordenti M2024-05-02common core dataset, health technology assessment, healthcare systems, natural history, osteogenesis imperfecta, rare diseases, real-world data, registries, regulatorsOrphanet journal of rare diseases
Lessons from prospective longitudinal follow-up of a French APECED cohort.Humbert L, Proust-Lemoine E, Dubucquoi S, Kemp EH, Saugier-Veber P, Fabien N, Raymond-Top I, Cardot-Bauters C, Carel JC, Cartigny M, Chabre O, Chanson P, Delemer B, Do Cao C, Guignat L, Kahn JE, Kerlan V, Lefebvre H, Linglart A, Mallone R, Reynaud R, Sendid B, Souchon PF, Touraine P, Wémeau JL, Vantyghem MC2024-04-12AIRE genotype, APECED syndrome, asplenia, autoimmune polyendocrine syndrome type 1, pulmonary involvementThe Journal of clinical endocrinology and metabolism
Differential DNA methylation in iPSC-derived dopaminergic neurons: a step forward on the role of SNORD116 microdeletion in the pathophysiology of addictive behavior in Prader-Willi syndrome.Salles J, Eddiry S, Amri S, Galindo M, Lacassagne E, George S, Mialhe X, Lhuillier É, Franchitto N, Jeanneteau F, Gennero I, Salles JP, Tauber M2024-04-02Molecular psychiatry
Vasorin as an actor of bone turnover?Andrique C, Bonnet AL, Dang J, Lesieur J, Krautzberger AM, Baroukh B, Torrens C, Sadoine J, Schmitt A, Rochefort GY, Bardet C, Six I, Houillier P, Tharaux PL, Schrewe H, Gaucher C, Chaussain C2024-03-19bone, osteoblast, osteoclast, physiologyJournal of cellular physiology
Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related.Ramos-Mejía R, Heath KE, Modamio-Høybjør S, Huckstadt V, Calcagni J, Remondino R, Fano V2024-03-01corner fracture, odontoid anomalies, skeletal dysplasia Sutcliff typeAmerican journal of medical genetics. Part A
Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population.de Brito Chagas J, Cordinhã C, do Carmo C, Alves C, Heath KE, Sousa SB, Gomes C2024-03-01children, osteomyelitis, rickets, vitamin DJournal of pediatric genetics
Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1.Lévy R, Escudier A, Bastard P, Briand C, Polivka L, Stoupa A, Talbotec C, Rothenbuhler A, Charbit M, Debray D, Bodemer C, Casanova JL, Linglart A, Neven B2023-12-19AIRE, APS-1, Jak inhibitor, RuxolitinibJournal of clinical immunology
Short stature and scoliosis: revealing signs of ultrarare skeletal dysplasia.Rodríguez Del Rosario S, Modamio-Høybjør S, Heath KE, Bahillo-Curieses MP2023-11-01Anales de pediatria
Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.Travessa AM, Dias P, Rosmaninho-Salgado J, Aza-Carmona M, Moldovan O, Díaz-González F, Godinho F, Romeu JC, Oliveira-Ramos F, do Céu Barreiros M, Sousa SB, Heath KE, Sousa AB2023-11-01Autosomal recessive, Bone fragility, Osteogenesis imperfecta, Osteogenesis imperfecta type VI, Pigment epithelium-derived factor (PEDF), SERPINF1European journal of medical genetics
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports.Storoni S, Celli L, Zhytnik L, Maasalu K, Märtson A, Kõks S, Khmyzov S, Pashenko A, Maugeri A, Zambrano A, Celli M, Eekhoff EMW, Micha D2023-11-01Bisphosphonates, Clinical phenotype, Osteogenesis imperfecta, Pathogenic variants, SPARC geneEuropean journal of medical genetics
Neonatal and Early Infancy Features of Patients With Inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism.Del Sindaco G, Berkenou J, Pagnano A, Rothenbuhler A, Arosio M, Mantovani G, Linglart A2023-10-18ectopic ossifications, infancy, neonatal complications, newborns, pseudohypoparathyroidismThe Journal of clinical endocrinology and metabolism
Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study.Boros E, Ertl DA, Berkenou J, Audrain C, Lecoq AL, Kamenicky P, Briot K, Amouroux C, Zhukouskaya V, Gueorguieva I, Mignot B, Girerd B, Porquet Bordes V, Salles JP, Edouard T, Coutant R, Bacchetta J, Linglart A, Rothenbuhler A2023-10-17PHEX, XLH, final height, quality of life, short statureEuropean journal of endocrinology
Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.Akgun-Dogan O, Díaz-González F, de Lima Jorge AA, Onenli-Mungan N, Menezes Andrade NL, de Polli Cellin L, Ceylaner S, Barcellos Rosa Modkovski M, Alanay Y, Heath KE2023-10-04European journal of human genetics : EJHG
Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient.Del Pino M, Huckstadt V, Diaz-Gonzalez F, Obregon MG, Heath KE, Fano V2023-08-01American journal of medical genetics. Part A
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 A2023-08-01Acrodysostosis, Auxology, Inactivating PTH/PTHrP signaling disorders, Pediatric, Recombinant human growth hormone, SGA, Short statureJournal of endocrinological investigation
Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.Ertl DA, de Nanclares GP, Jüppner H, Hanna P, Pagnano A, Pereda A, Rothenbuhler A, Del Sindaco G, Ruiz-Cuevas P, Audrain C, Escribano A, Berkenou J, Gleiss A, Mantovani G, Linglart A2023-07-20iPPSD, pediatric, pseudohypoparathyroidism, recombinant human growth hormone, short statureEuropean journal of endocrinology
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.Díaz-González F, Parrón-Pajares M, Lucas-Castro E, Modamio-Høybjør S, Sentchordi-Montané L, Seidel V, Prieto P, Tarraso-Urios G, Codina-Sola M, Cueto-González AM, Ballesta-Martínez MJ, Santos-Simarro F, Sousa SB, Heath KE2023-07-01RPL13, skeletal dysplasia, spondyloepimetaphyseal dysplasia (SEMD)Clinical genetics
Clinical heterogeneity of NADSYN1-associated VCRL syndrome.Aubert-Mucca M, Janel C, Porquet-Bordes V, Patat O, Touraine R, Edouard T, Michot C, Tessier A, Cormier-Daire V, Attie-Bitach T, Baujat G2023-07-01NAD deficiency disorder, NADSYN1, VCRL, spondylocostal dysostosisClinical genetics
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.Maghnie M, Semler O, Guillen-Navarro E, Selicorni A, Heath KE, Haeusler G, Hagenäs L, Merker A, Leiva-Gea A, González VL, Raimann A, Rehberg M, Santos-Simarro F, Ertl DA, Gregersen PA, Onesimo R, Landfeldt E, Jarrett J, Quinn J, Rowell R, Pimenta J, Cohen S, Butt T, Shediac R, Mukherjee S, Mohnike K2023-03-15Achondroplasia, Disease burden, Fibroblast growth factor receptor 3 (FGFR3), Natural history, Skeletal dysplasiaOrphanet journal of rare diseases
Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1.Rosenberg AGW, Mochèl K, Hähner LM, Ruules L, Davidse K, Bos-Roubos AG, van Dijk SA, Zillikens MC, Taal W, van der Lely AJ, de Graaff LCG2023-01-01Neurofibromatosis type 1 (NF1), adult, endocrinology, fatigue, internal medicineFrontiers in endocrinology
Young XLH Patients-Reported Experience with a Supportive Care Program.Rothenbuhler A, Gueorguieva I, Lichtenberger-Geslin L, Audrain C, Soskin S, Bensignor C, Rossignol S, Bertholet-Thomas A, Naudeau L, Bacchetta J, Linglart A2023-01-01XLH, aXess support program, children, hypophosphatemia, nurses, patient support program, quality of lifePatient preference and adherence
New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly.Sifre-Ruiz A, Sagasta A, Santos E, Perez de Nanclares G, Heath KE2023-01-01DLX5, FATCO, SHFLD, SHFM, fibular aplasia, tibial campomelia and oligosyndactyly, split hand/foot malformation, split hand/foot malformation with long bone deficiency, trio exome sequencingFrontiers in genetics
Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome.Lorenzo C, Travessa AM, Ferreira AC, Modamio-Høybjør S, Heath KE, Pereira C2023-01-01RECQL4, Rothmund-Thomson syndrome, anal stenosis, intronic variant, poikiloderma, precocious pubertyAmerican journal of medical genetics. Part A
Growth hormone treatment improves final height in children with X-linked hypophosphatemia.André J, Zhukouskaya VV, Lambert AS, Salles JP, Mignot B, Bardet C, Chaussain C, Rothenbuhler A, Linglart A2022-12-21Fibroblast growth factor 23, Final height, Recombinant human growth hormone, Rickets, X-linked hypophosphatemiaOrphanet journal of rare diseases
Bone Health in Adults With Prader-Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study.van Abswoude DH, Pellikaan K, Rosenberg AGW, Davidse K, Coupaye M, Høybye C, Markovic TP, Grugni G, Crinò A, Caixàs A, Poitou C, Mosbah H, Weir T, van Vlimmeren LA, Rutges JPHJ, De Klerk LWL, Zillikens MC, van der Lely AJ, de Graaff LCG2022-12-17Prader–Willi syndrome, bone density, hormone replacement therapy, human growth hormone, osteoporosis, scoliosisThe Journal of clinical endocrinology and metabolism
Achondroplasia: Update on diagnosis, follow-up and treatment.Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, Marín Del Barrio S, Heath KE, Marín Reina P, Guillén-Navarro E, Santos Simarro F, Riaño Galán I, Yeste Fernández D, Leiva-Gea I2022-12-01Achondroplasia, Acondroplasia, Bone dysplasia, Displasia óseaAnales de pediatria
Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.Caino S, Cubilla MA, Alba R, Obregón MG, Fano V, Gómez A, Zecchini L, Lapunzina P, Aza-Carmona M, Heath KE, Asteggiano CG2022-11-07EXT1/EXT2-CDG, O-glycosylation disorders, multiple exostosis, multiple osteochondromatosis, osteochondromaGenes
Impact of claudin-10 deficiency on amelogenesis: Lesson from a HELIX tooth.Obtel N, Le Cabec A, Nguyen TN, Giabicani E, Van Malderen SJM, Garrevoet J, Percot A, Paris C, Dean C, Hadj-Rabia S, Houillier P, Breiderhoff T, Bardet C, Coradin T, Ramirez Rozzi F, Chaussain C2022-10-01apatite, claudins, enamel, renal dysfunction, tight junctions, xerostomiaAnnals of the New York Academy of Sciences
Variable skeletal phenotypes associated with biallelic variants in PRKG2.Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, Ferla MP, Toosi MB, Calder AD, Karimiani EG, Doosti M, Wainwright A, Wordsworth P, Bailey K, Ejeskär K, Lester T, Maroofian R, Heath KE, Tajsharghi H, Shears D, Taylor JC2022-10-01codon, frameshift mutation, genomics, musculoskeletal diseases, nonsense, phenotypeJournal of medical genetics
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.Pacio-Miguez M, Parrón-Pajares M, Gordon CT, Santos-Simarro F, Rodríguez Jiménez C, Mena R, Rueda Arenas I, F Montaño VE, Fernández M, Solís M, Del Pozo Á, Amiel J, García-Miñaur S, Palomares-Bralo M2022-09-01CODAS syndrome, EVE dysplasia, EVEN-PLUS syndrome, HSPA9, anorectal malformation, aplasia cutisAmerican journal of medical genetics. Part A
The Tyrosine Phosphatase SHP2: A New Target for Insulin Resistance?Saint-Laurent C, Mazeyrie L, Tajan M, Paccoud R, Castan-Laurell I, Valet P, Edouard T, Pradère JP, Dray C, Yart A2022-08-31Noonan syndrome, SH2 containing protein tyrosine phosphatase 2, inflammation, insulin resistance, macrophageBiomedicines
Novel FGF9 variant contributes to multiple synostoses syndrome 3.Dobson SM, Kiss C, Borschneck D, Heath KE, Gross A, Glucksman MJ, Guerin A2022-07-01FGF9, joint dislocation, skeletal dysplasiaAmerican journal of medical genetics. Part A
Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre.Rouleau C, Malorie M, Collet C, Porquet-Bordes V, Gennero I, Eddiry S, Laroche M, Salles JP, Couture G, Edouard T2022-06-01Bone mineral density, DXA, Early-onset osteoporosis, Idiopathic juvenile osteoporosis, Primary osteoporosisBone reports
WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis.Caetano da Silva C, Edouard T, Fradin M, Aubert-Mucca M, Ricquebourg M, Raman R, Salles JP, Charon V, Guggenbuhl P, Muller M, Cohen-Solal M, Collet C2022-05-19Human molecular genetics
Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia.Tornero C, Navarro-Compán V, Buño A, Heath KE, Díaz-Almirón M, Balsa A, Tenorio JA, Quer J, Aguado P2022-03-03ALPL, Alkaline phosphatase, Hypophosphatasaemia, Hypophosphatasia, Metabolic bone diseasesOrphanet journal of rare diseases
Combining sclerostin neutralization with tissue engineering: An improved strategy for craniofacial bone repair.Maillard S, Sicard L, Andrique C, Torrens C, Lesieur J, Baroukh B, Coradin T, Poliard A, Slimani L, Chaussain C2022-03-01Bone repair, Dense collagen hydrogel, Dental pulp stem cells, Monoclonal antibody therapy, Sost/sclerostin, Tissue engineeringActa biomaterialia
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO2022-03-01Nature reviews. Endocrinology
Exploring the genetic causes of isolated short stature. What has happened to idiopathic short stature?Willems M, Amouroux C, Barat-Houari M, Salles JP, Edouard T2022-02-01Growth retardation, Idiopathic short stature, Molecular analyses, Skeletal dysplasiaArchives de pediatrie : organe officiel de la Societe francaise de pediatrie
Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum.Koumakis E, Cormier-Daire V, Dellal A, Debernardi M, Cortet B, Debiais F, Javier RM, Thomas T, Mehsen-Cetre N, Cohen-Solal M, Fontanges E, Laroche M, Porquet-Bordes V, Marcelli C, Benachi A, Briot K, Roux C, Cormier C2022-01-28Breastfeeding, Fracture, Osteogenesis Imperfecta, PregnancyOrphanet journal of rare diseases
Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries.Mughal MZ, Baroncelli GI, de Lucas-Collantes C, Linglart A, Magnolato A, Raimann A, Santos F, Schnabel D, Shaw N, Nilsson O2022-01-01XLH, adolescents, burosumab, children, dosing, growth plate closure, rickets, transitionFrontiers in endocrinology
Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome.Diaz-Gonzalez F, Sacedo-Gutiérrez JM, Twigg SRF, Calpena E, Carceller-Benito FE, Parrón-Pajares M, Santos-Simarro F, Heath KE2022-01-015′ UTR, Saethre-Chotzen syndrome, Twist1, craniosynostosis, geneticsFrontiers in genetics
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.Díaz-González F, Wadhwa S, Rodriguez-Zabala M, Kumar S, Aza-Carmona M, Sentchordi-Montané L, Alonso M, Ahmad I, Zahra S, Kumar D, Kushwah N, Shamim U, Sait H, Kapoor S, Roldán B, Nishimura G, Offiah AC, Faruq M, Heath KE2022-01-01bone diseases, endocrine, gene expression regulation, genomics, human genetics, molecular medicineJournal of medical genetics
Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels.Delagrange M, Rousseau V, Cessans C, Pienkowski C, Oliver I, Jouret B, Cartault A, Diene G, Tauber M, Salles JP, Yart A, Edouard T2021-12-01Bone mass, Insulin-like growth factor 1, Muscle mass, Noonan syndrome, RAS/ERK signaling pathway, RASopathiesBone
Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature.Aubert-Mucca M, Dubucs C, Groussolles M, Vial J, Le Guillou E, Porquet-Bordes V, Pasmant E, Salles JP, Edouard T2021-12-01Calcimimetics, Calcium-sensing receptor, Familial hypocalciuric hypercalcemia, Neonatal severe hyperparathyroidismBone reports
Insights into the palaeobiology of an early Homo infant: multidisciplinary investigation of the GAR IVE hemi-mandible, Melka Kunture, Ethiopia.Le Cabec A, Colard T, Charabidze D, Chaussain C, Di Carlo G, Gaudzinski-Windheuser S, Hublin JJ, Melis RT, Pioli L, Ramirez-Rozzi F, Mussi M2021-11-29Scientific reports
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Díaz-González F, Modamio-Høybjør S, de la Torre C, Nevado J, Ruiz-Ocaña P, Bezanilla-López C, Prieto P, Bahíllo-Curieses P, Carcavilla A, Mulero-Collantes I, Barreda-Bonis AC, Cruz-Rojo J, Ramírez-Fernández J, Bermúdez de la Vega JA, Travessa AM, González de Buitrago Amigo J, Del Pozo A, Vallespín E, Solís M, Goetz C, Campos-Barros Á, Santos-Simarro F, González-Casado I, Ros-Pérez P, Parrón-Pajares M, Heath KE2021-10-11European journal of endocrinology
Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.Bonilla-Fornés S, Galán-Ledesma L, Pérez PM, Modamio-Høybjør S, Carbonell-Pérez JM, Parrón-Pajares M, Heath KE, Galán-Gómez E2021-10-01MMP13, MMP9, Metaphyseal anadysplasia, Skeletal dysplasiaEuropean journal of medical genetics
Is ghrelin a biomarker of early-onset scoliosis in children with Prader-Willi syndrome?Pacoricona Alfaro DL, Diene G, Pinto G, Salles JP, Gennero I, Faye S, Molinas C, Valette M, Arnaud C, Tauber M2021-07-08AG/UAG ratio, Acylated ghrelin, Early-onset scoliosis, Prader–Willi syndrome, Total ghrelin, Unacylated ghrelinOrphanet journal of rare diseases
Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.Del Pino M, Sanchez-Soler MJ, Parrón-Pajares M, Aza-Carmona M, Heath KE, Fano V2021-05-01ODCD, Odontochondrodysplasia, SMD, Spondylometaphyseal dysplasia, TRIP11European journal of medical 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 F2021-03-01LIFR, Stuve-Wiedemann syndrome, dysautonomia, skeletal abnormalitiesAmerican journal of medical genetics. Part A
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.El Allali Y, Hermetet C, Bacchetta J, Amouroux C, Rothenbuhler A, Porquet-Bordes V, Champigny MA, Baron S, Barat P, Bony-Trifunovic H, Bourdet K, Busiah K, Cartigny-Maciejewski M, Compain F, Coutant R, Amsellem-Jager J, De Kerdanet M, Magontier N, Mignot B, Richard O, Rossignol S, Soskin S, Berot A, Naud-Saudreau C, Salles JP, Linglart A, Edouard T, Lienhardt-Roussie A2021-02-01European journal of endocrinology
Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.Sentchordi-Montané L, Diaz-Gonzalez F, Cátedra-Vallés EV, Heath KE2021-02-01FGF9, SYNS, joint fusion, multiple synostosis, skeletal dysplasiaClinical genetics
Mineral and Bone Consequences of High Dose Denosumab Therapy to Treat an Aneurysmal Bone Cyst, a Child Case Report.Del Sindaco G, Berlanga P, Brugières L, Thebault E, Mantovani G, Wicart P, Linglart A2021-01-01aneurysmal bone cyst, bisphosphonate, bone modeling, denosumab, hypercalcemiaFrontiers in endocrinology
Human dentin characteristics of patients with osteogenesis imperfecta: insights into collagen-based biomaterials.Pragnère S, Auregan JC, Bosser C, Linglart A, Bensidhoum M, Hoc T, Nouguier-Lehon C, Chaussain C2021-01-01Deciduous teeth, Hardness, Osteogenesis imperfecta, Raman microspectroscopy, biomineralizationActa biomaterialia
Guidelines for the management of children at risk of secondary bone fragility: Expert opinion of a French working group.Edouard T, Guillaume-Czitrom S, Bacchetta J, Sermet-Gaudelus I, Dugelay E, Martinez-Vinson C, Salles JP, Linglart A2020-10-01Bone fragility, Children, OsteoporosisArchives de pediatrie : organe officiel de la Societe francaise de pediatrie
Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy.Salles JP2020-02-01The Clinical biochemist. Reviews
Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series.Flot C, Porquet-Bordes V, Bacchetta J, Rothenbuhler A, Lienhardt-Roussie A, Giabicani E, Gueorguieva I, Storey C, Linglart A, Salles JP, Edouard T2020-01-01Nutritional rickets, Risk factors, Vitamin D deficiencyHormone research in paediatrics
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Last update: May 18th, 2024 on 01:30