| 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 |
| 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | Hormone research in paediatrics |
