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Page 1
Growth reference charts for children with hypochondroplasia.
Cheung MS, Cole TJ, Arundel P, Bridges N, Burren CP, Cole T, Davies JH, Hagenäs L, Högler W, Hulse A, Mason A, McDonnell C, Merker A, Mohnike K, Sabir A, Skae M, Rothenbuhler A, Warner J, Irving M. Cheung MS, et al. Among authors: davies jh. Am J Med Genet A. 2024 Feb;194(2):243-252. doi: 10.1002/ajmg.a.63431. Epub 2023 Oct 9. Am J Med Genet A. 2024. PMID: 37814549
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).
Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O; European Reference Network on Rare Endocrine Conditions (ENDO-ERN. Eggermann T, et al. Orphanet J Rare Dis. 2020 Jun 8;15(1):144. doi: 10.1186/s13023-020-01420-w. Orphanet J Rare Dis. 2020. PMID: 32513286 Free PMC article. Review.
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F. Nitschke Y, et al. Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi: 10.1016/j.ajhg.2011.11.020. Epub 2011 Dec 29. Am J Hum Genet. 2012. PMID: 22209248 Free PMC article.
Predictors of surgical complications in boys with hypospadias: data from an internationa registry.
Scougall K, Bryce J, Baronio F, Boal RL, Castera JR, Castro S, Cheetham T, Costa EC, Darendeliler F, Davies JH, Dirlewanger M, Gazdagh G, Globa E, Guerra-Junior G, Guran T, Herrmann G, Holterhus PM, Akgül AK, Markosyan R, McElreavey K, Miranda ML, Nordenstrom A, O'Toole S, Poyrazoglu S, Russo G, Schwitzgebel V, Stancampiano M, Steigert M, Ahmed SF, Lucas-Herald AK. Scougall K, et al. Among authors: davies jh. World J Pediatr Surg. 2023 Oct 11;6(4):e000599. doi: 10.1136/wjps-2023-000599. eCollection 2023. World J Pediatr Surg. 2023. PMID: 37860275 Free PMC article.
Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022.
Tseretopoulou X, Ali SR, Bryce J, Amin N, Atapattu N, Bachega TASS, Baronio F, Ortolano R, Birkebaek NH, Bonfig W, Cools M, Davies JH, Thomas T, de Vries L, Elsedfy H, Amr NH, Flueck CE, Globa E, Guran T, Yavas-Abali Z, Guven A, Hannema SE, Iotova V, Konrad D, Lenherr-Taube N, Krone NP, Leka-Emiri S, Vlachopapadopoulou E, Lichiardopol C, Marginean O, Markosyan R, Neumann U, Niedziela M, Banaszak-Ziemska M, Phan-Hug F, Poyrazoglu S, Probst-Scheidegger U, Randell T, Russo G, Salerno M, Seneviratne S, Shnorhavorian M, Thankamony A, Tadokoro-Curraro R, van den Akker E, van Eck J, Vieites A, Wasniewska M, Ahmed SF. Tseretopoulou X, et al. Among authors: davies jh. J Endocr Soc. 2024 Aug 20;8(10):bvae145. doi: 10.1210/jendso/bvae145. eCollection 2024 Aug 27. J Endocr Soc. 2024. PMID: 39258010 Free PMC article.
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
Mackay DJG, Gazdagh G, Monk D, Brioude F, Giabicani E, Krzyzewska IM, Kalish JM, Maas SM, Kagami M, Beygo J, Kahre T, Tenorio-Castano J, Ambrozaitytė L, Burnytė B, Cerrato F, Davies JH, Ferrero GB, Fjodorova O, Manero-Azua A, Pereda A, Russo S, Tannorella P, Temple KI, Õunap K, Riccio A, de Nanclares GP, Maher ER, Lapunzina P, Netchine I, Eggermann T, Bliek J, Tümer Z. Mackay DJG, et al. Among authors: davies jh. Clin Epigenetics. 2024 Aug 1;16(1):99. doi: 10.1186/s13148-024-01713-y. Clin Epigenetics. 2024. PMID: 39090763 Free PMC article. Review.
Approach to the Patient With Suspected Silver-Russell Syndrome.
Kurup U, Lim DBN, Palau H, Maharaj AV, Ishida M, Davies JH, Storr HL. Kurup U, et al. Among authors: davies jh. J Clin Endocrinol Metab. 2024 Sep 16;109(10):e1889-e1901. doi: 10.1210/clinem/dgae423. J Clin Endocrinol Metab. 2024. PMID: 38888172 Free PMC article. Review.
230 results