| Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series. | Faria AG, Montenegro LR, Jorge AAL, Martin RM, Fragoso MCBV, Tinano FR, Seraphim CE, Canton APM, Gomes LG, Martos-Moreno GA, García IT, Carcavilla A, Tirado-Capistros M, Souza-Pinto NC, Argente J, Latronico AC, Mendonca BB, Brito VN | 2025-05-14 | McCune-Albright syndrome, aromatase inhibitors, digital droplet PCR, precocious puberty, tamoxifen | Archives of endocrinology and metabolism |
| Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families. | Loid P, Wang F, Lennartsson O, Muurinen M, Costantini A, Vats S, Lodefalk M, Nilsson O, Mäkitie O | 2025-04-08 | Endocrinology, Genetic Testing, Human Genetics, Pediatrics | Journal of medical genetics |
| Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes. | Carcavilla A, Pereda A, Miyado M, Fukami M, Kato F, Sengoku T, Ogata K, Clemente M, Valenzuela I, Mantovani G, Cappa M, Cavarzere P, Vado Y, González-Casado I, Ogata T, Perez de Nanclares G | 2025-03-27 | GNAS gene, activating variants, hyponatraemia, inactivating variants, nephrogenic syndrome of inappropriate antidiuresis, pseudohypoparathyroidism | European journal of endocrinology |
| Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions. | Sentchordi-Montané L, Díaz-Gonzalez F, Modamio-Høybjør S, Nevado J, Machado-Fernandes F, Carcavilla A, Salcedo M, Saraiva J, Kant SG, de Bruin C, van Duyvenvoorde HA, González-Cabaleiro I, Rey-Cordo L, Chamorro-Martín JL, Cancela-Muñiz V, Alcón-Sáez JJ, Parrón-Pajares M, Sousa SB, Heath KE | 2025-03-24 | ACAN, CNV, early onset osteoarthritis, osteochondritis dissecans, short stature, skeletal dysplasias | Clinical endocrinology |
| Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey. | Zucchi D, Marinello D, Tani C, Fulvio G, Aguilera S, Benachi A, Biller R, Blanco I, Borgards P, Boiteux MC, Brandi ML, Costafreda E, Fonseca JE, Fredi M, Iotova V, Louisse S, Nalli C, Onali M, Power B, Rousset-Jablonski C, Sturz D, Tincani A, Vieira A, Capela S, Dan D, De Backer J, de Die-Smulders C, Dufke A, Artzner EL, Limongelli G, Lorenz B, Papenthin W, Pascau MJ, Raidt J, Ray-Coquard I, Rimmer R, Röhl C, Schneider H, Yap T, Talarico R, Mosca M | 2025-03-10 | Pregnancy-related issues, Rare diseases, Unmet needs | Orphanet journal of rare diseases |
| Fully instrumented gait analysis in rare bone diseases - A scoping review of the literature. | Horn J, Leardini A, Benedetti MG, Hestnes TM, Mindler G, Wekre LL, Sangiorgi L, Alves I, Trisolino G | 2025-02-13 | Bone disorder, Fully instrumented gait analysis, Gait analysis, Gait deviations, Limb deformities, Rare, Rare bone disease | Gait & posture |
| Publisher Correction: Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. | Haffner D, Emma F, Seefried L, Högler W, Javaid KM, Bockenhauer D, Bacchetta J, Eastwood D, Duplan MB, Schnabel D, Wicart P, Ariceta G, Levtchenko E, Harvengt P, Kirchhoff M, Gardiner O, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenický P, Rejnmark L, Linglart A | 2025-02-04 | | Nature reviews. Nephrology |
| Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program. | Cormier-Daire V, Edouard T, Isidor B, Mukherjee S, Pimenta JM, Rossi M, Schaefer E, Sigaudy S, Baujat G | 2025-01-25 | Achondroplasia, Early access program, Growth, Safety, Vosoritide | Hormone research in paediatrics |
| Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. | Haffner D, Emma F, Seefried L, Högler W, Javaid KM, Bockenhauer D, Bacchetta J, Eastwood D, Duplan MB, Schnabel D, Wicart P, Ariceta G, Levtchenko E, Harvengt P, Kirchhoff M, Gardiner O, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenický P, Rejnmark L, Linglart A | 2025-01-15 | | Nature reviews. Nephrology |
| Successful Use of Metyrapone Suppositories in an Infant with Neonatal Cushing and McCune Albright Syndrome: A Case Report. | Ertl DA, Ratzinger-Stoeger G, Raimann A, Anzengruber M, Skoll K, Gabor F, Hartmann MF, Wudy SA, Hartmann G | 2025-01-01 | McCune Albright syndrome, Metyrapone, Neonatal Cushing, Treatment | Hormone research in paediatrics |
| Expert consensus for the management of patients with achondroplasia in treatment with vosoritide. | Barreda-Bonis AC, de Bergua Domingo JM, Galán-Gómez E, Guillén-Navarro E, Leiva-Gea I, Riaño-Galán I | 2024-12-06 | Achondroplasia, Acondroplasia, Asistencia sanitaria integral, Care team, Consenso, Consensus, Equipo multidisciplinar, Holistic health care, Vosoritida, Vosoritide | Anales de pediatria |
| Survey on vitamin D supplementation in children in France: Evaluation of real-life practices following the new 2022 French recommendations. | Pechabrier ML, Bacchetta J, Tounian P, Eddiry S, Linglart A, Edouard T | 2024-11-19 | Dietary intakes of calcium, Unlicensed food supplements, Vitamin D supplementation | Archives de pediatrie : organe officiel de la Societe francaise de pediatrie |
| Possible role of bone turnover markers in the diagnosis of adult hypophosphatasia. | Bertoldo F, Tripepi G, Zaninotto M, Plebani M, Scillitani A, Varenna M, Crotti C, Cipriani C, Pepe J, Minisola S, Pugliese F, Guarnieri V, Baffa V, Torres MO, Zanchetta F, Fusaro M, Rossini M, Brandi ML, Egan CG, Simioni P, Arcidiacono GP, Sella S, Giannini S | 2024-11-05 | | Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research |
| Meeting report from the 3rd ISCBH-ERN BOND Achondroplasia Workshop on Long Bone Pathology in Children with Achondroplasia, Salzburg, Austria 22nd June 2024. | Cheung MS, Alves I, Carl-Inning P, Eastwood D, Magnhnie M, Offiah A, Paley D, Riganti S, Savarirayan R, Sessa M, Vogt B, Mohnike K | 2024-10-02 | Achondroplasia, Intramedullary nails, Limb lengthening, Patient views, Surgery | Bone |
| Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene. | Mancini M, Chapurlat R, Isidor B, Desjonqueres M, Couture G, Guggenbuhl P, Coutant R, El Chehadeh S, Fradin M, Frazier A, Goldenberg A, Guillot P, Koumakis E, Mehsen-Cêtre N, Rossi M, Schaefer É, Sigaudy S, Porquet-Bordes V, Fontanges É, Letard P, Edouard T, Javier RM, Cohen-Solal M, Funck-Brentano T, Collet C | 2024-09-24 | LRP5, PLS3, Digenism, Early-onset osteoporosis | Calcified tissue international |
| Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome. | Ramos-Mejía R, Del Pino M, Aza-Carmona M, Abbate S, Obregon MG, Heath KE, Fano V | 2024-09-01 | carpal coalition, filamin B, scoliosis, skeletal dysplasia, spondylocarpotarsal synostosis syndrome | Journal of pediatric genetics |
| Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2). | Edouard T, Linglart A | 2024-09-01 | Autosomal recessive hypophosphatemic rickets type 2 (ARHR2), Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1 deficiency), Generalized arterial calcification of infancy (GACI) | Archives de pediatrie : organe officiel de la Societe francaise de pediatrie |
| Nutritional rickets: Refusing to turn back the clock. | Linglart A, Werner A, Tounian P, Bacchetta J | 2024-08-29 | Rickets, Vitamin D | Archives de pediatrie : organe officiel de la Societe francaise de pediatrie |
| Orofacial Features, Oral Health-Related Quality of Life, and Exposure to Bullying in Osteogenesis Imperfecta: A Cross-Sectional Study. | Broutin A, Salles JP, Porquet-Bordes V, Edouard T, Vaysse F, Noirrit-Esclassan E | 2024-07-26 | bullying, malocclusion, oral health-related quality of life, osteogenesis imperfecta | Children (Basel, Switzerland) |
| High prevalence of hypercalcitoninemia in a large cohort of adult and paediatric patients with PTH resistance syndromes. | Cremaschi A, Del Sindaco G, Pagnano A, Dolci A, Berkenou J, Rothenbuhler A, Contarino A, Ferrante E, Arosio M, Giannetta E, Linglart A, Mantovani G | 2024-06-28 | C-cell hyperplasia, calcitonin, hormonal resistance, pseudohypoparathyroidism | The Journal of clinical endocrinology and metabolism |
| Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects. | Díaz-González F, Sentchordi-Montané L, Lucas Castro E, Modamio-Høybjør S, Heath KE | 2024-06-25 | IHH, C-terminal variants, brachydactyly, functional studies, short stature | European journal of endocrinology |
| Improved Oral Health in Adults with X-Linked Hypophosphatemia Treated with Burosumab. | Hervé A, Gadion M, Herrou J, Izart M, Linglart A, Cohen-Solal M, Lecoq AL, Kamenicky P, Briot K, Chaussain C, Biosse Duplan M | 2024-06-12 | | The Journal of clinical endocrinology and metabolism |
| 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 M | 2024-05-15 | Achondroplasia, Adult, Assessment, Checklist, EAF, Follow-up, Sleep apnoea, Spinal stenosis, Transition | Advances 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 M | 2024-05-02 | common core dataset, health technology assessment, healthcare systems, natural history, osteogenesis imperfecta, rare diseases, real-world data, registries, regulators | Orphanet 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 MC | 2024-04-12 | AIRE genotype, APECED syndrome, asplenia, autoimmune polyendocrine syndrome type 1, pulmonary involvement | The 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 M | 2024-04-02 | | Molecular 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 C | 2024-03-19 | bone, osteoblast, osteoclast, physiology | Journal 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 V | 2024-03-01 | corner fracture, odontoid anomalies, skeletal dysplasia Sutcliff type | American 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 C | 2024-03-01 | children, osteomyelitis, rickets, vitamin D | Journal 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 B | 2023-12-19 | AIRE, APS-1, Jak inhibitor, Ruxolitinib | Journal of clinical immunology |
| Short stature and scoliosis: revealing signs of ultrarare skeletal dysplasia. | Rodríguez Del Rosario S, Modamio-Høybjør S, Heath KE, Bahillo-Curieses MP | 2023-11-01 | | Anales 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 AB | 2023-11-01 | Autosomal recessive, Bone fragility, Osteogenesis imperfecta, Osteogenesis imperfecta type VI, Pigment epithelium-derived factor (PEDF), SERPINF1 | European 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 D | 2023-11-01 | Bisphosphonates, Clinical phenotype, Osteogenesis imperfecta, Pathogenic variants, SPARC gene | European 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 A | 2023-10-18 | ectopic ossifications, infancy, neonatal complications, newborns, pseudohypoparathyroidism | The 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 A | 2023-10-17 | PHEX, XLH, final height, quality of life, short stature | European 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 KE | 2023-10-04 | | European 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 V | 2023-08-01 | | American 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 A | 2023-08-01 | Acrodysostosis, Auxology, Inactivating PTH/PTHrP signaling disorders, Pediatric, Recombinant human growth hormone, SGA, Short stature | Journal 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 A | 2023-07-20 | iPPSD, pediatric, pseudohypoparathyroidism, recombinant human growth hormone, short stature | European 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 KE | 2023-07-01 | RPL13, 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 G | 2023-07-01 | NAD deficiency disorder, NADSYN1, VCRL, spondylocostal dysostosis | Clinical 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 K | 2023-03-15 | Achondroplasia, Disease burden, Fibroblast growth factor receptor 3 (FGFR3), Natural history, Skeletal dysplasia | Orphanet 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 LCG | 2023-01-01 | Neurofibromatosis type 1 (NF1), adult, endocrinology, fatigue, internal medicine | Frontiers 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 A | 2023-01-01 | XLH, aXess support program, children, hypophosphatemia, nurses, patient support program, quality of life | Patient 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 KE | 2023-01-01 | DLX5, FATCO, SHFLD, SHFM, fibular aplasia, tibial campomelia and oligosyndactyly, split hand/foot malformation, split hand/foot malformation with long bone deficiency, trio exome sequencing | Frontiers 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 C | 2023-01-01 | RECQL4, Rothmund-Thomson syndrome, anal stenosis, intronic variant, poikiloderma, precocious puberty | American 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 A | 2022-12-21 | Fibroblast growth factor 23, Final height, Recombinant human growth hormone, Rickets, X-linked hypophosphatemia | Orphanet 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 LCG | 2022-12-17 | Prader–Willi syndrome, bone density, hormone replacement therapy, human growth hormone, osteoporosis, scoliosis | The 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 I | 2022-12-01 | Achondroplasia, Acondroplasia, Bone dysplasia, Displasia ósea | Anales 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 CG | 2022-11-07 | EXT1/EXT2-CDG, O-glycosylation disorders, multiple exostosis, multiple osteochondromatosis, osteochondroma | Genes |
| 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 C | 2022-10-01 | apatite, claudins, enamel, renal dysfunction, tight junctions, xerostomia | Annals 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 JC | 2022-10-01 | codon, frameshift mutation, genomics, musculoskeletal diseases, nonsense, phenotype | Journal 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 M | 2022-09-01 | CODAS syndrome, EVE dysplasia, EVEN-PLUS syndrome, HSPA9, anorectal malformation, aplasia cutis | American 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 A | 2022-08-31 | Noonan syndrome, SH2 containing protein tyrosine phosphatase 2, inflammation, insulin resistance, macrophage | Biomedicines |
| Novel FGF9 variant contributes to multiple synostoses syndrome 3. | Dobson SM, Kiss C, Borschneck D, Heath KE, Gross A, Glucksman MJ, Guerin A | 2022-07-01 | FGF9, joint dislocation, skeletal dysplasia | American 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 T | 2022-06-01 | Bone mineral density, DXA, Early-onset osteoporosis, Idiopathic juvenile osteoporosis, Primary osteoporosis | Bone 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 C | 2022-05-19 | | Human 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 P | 2022-03-03 | ALPL, Alkaline phosphatase, Hypophosphatasaemia, Hypophosphatasia, Metabolic bone diseases | Orphanet 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 C | 2022-03-01 | Bone repair, Dense collagen hydrogel, Dental pulp stem cells, Monoclonal antibody therapy, Sost/sclerostin, Tissue engineering | Acta 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 SO | 2022-03-01 | | Nature 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 T | 2022-02-01 | Growth retardation, Idiopathic short stature, Molecular analyses, Skeletal dysplasia | Archives 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 C | 2022-01-28 | Breastfeeding, Fracture, Osteogenesis Imperfecta, Pregnancy | Orphanet 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 O | 2022-01-01 | XLH, adolescents, burosumab, children, dosing, growth plate closure, rickets, transition | Frontiers 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 KE | 2022-01-01 | 5′ UTR, Saethre-Chotzen syndrome, Twist1, craniosynostosis, genetics | Frontiers 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 KE | 2022-01-01 | bone diseases, endocrine, gene expression regulation, genomics, human genetics, molecular medicine | Journal 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 T | 2021-12-01 | Bone mass, Insulin-like growth factor 1, Muscle mass, Noonan syndrome, RAS/ERK signaling pathway, RASopathies | Bone |
| 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 T | 2021-12-01 | Calcimimetics, Calcium-sensing receptor, Familial hypocalciuric hypercalcemia, Neonatal severe hyperparathyroidism | Bone 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 M | 2021-11-29 | | Scientific 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 KE | 2021-10-11 | | European 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 E | 2021-10-01 | MMP13, MMP9, Metaphyseal anadysplasia, Skeletal dysplasia | European 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 M | 2021-07-08 | AG/UAG ratio, Acylated ghrelin, Early-onset scoliosis, Prader–Willi syndrome, Total ghrelin, Unacylated ghrelin | Orphanet 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 V | 2021-05-01 | ODCD, Odontochondrodysplasia, SMD, Spondylometaphyseal dysplasia, TRIP11 | European 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 F | 2021-03-01 | LIFR, Stuve-Wiedemann syndrome, dysautonomia, skeletal abnormalities | American 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 A | 2021-02-01 | | European 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 KE | 2021-02-01 | FGF9, SYNS, joint fusion, multiple synostosis, skeletal dysplasia | Clinical 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 A | 2021-01-01 | aneurysmal bone cyst, bisphosphonate, bone modeling, denosumab, hypercalcemia | Frontiers 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 C | 2021-01-01 | Deciduous teeth, Hardness, Osteogenesis imperfecta, Raman microspectroscopy, biomineralization | Acta 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 A | 2020-10-01 | Bone fragility, Children, Osteoporosis | Archives de pediatrie : organe officiel de la Societe francaise de pediatrie |
| Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy. | Salles JP | 2020-02-01 | | The 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 T | 2020-01-01 | Nutritional rickets, Risk factors, Vitamin D deficiency | Hormone research in paediatrics |
