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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2003 1
2004 2
2005 3
2006 1
2007 5
2008 12
2009 6
2010 9
2011 6
2012 11
2013 8
2014 12
2015 11
2016 7
2017 13
2018 15
2019 23
2020 12
2021 16
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Search Results

156 results
Results by year
Filters applied: . Clear all The following term was not found in PubMed: Alarcon-Villamil
Page 1
Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective.
Collett-Solberg PF, Ambler G, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS, Cheung PT, Choong CSY, Cohen LE, Cohen P, Dauber A, Deal CL, Gong C, Hasegawa Y, Hoffman AR, Hofman PL, Horikawa R, Jorge AAL, Juul A, Kamenický P, Khadilkar V, Kopchick JJ, Kriström B, Lopes MLA, Luo X, Miller BS, Misra M, Netchine I, Radovick S, Ranke MB, Rogol AD, Rosenfeld RG, Saenger P, Wit JM, Woelfle J. Collett-Solberg PF, et al. Among authors: jorge aal. Horm Res Paediatr. 2019;92(1):1-14. doi: 10.1159/000502231. Epub 2019 Sep 12. Horm Res Paediatr. 2019. PMID: 31514194 Free PMC article. Review.
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Wakeling EL, et al. Among authors: jorge aa. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. Nat Rev Endocrinol. 2017. PMID: 27585961
Genetic short stature.
Grunauer M, Jorge AAL. Grunauer M, et al. Among authors: jorge aal. Growth Horm IGF Res. 2018 Feb;38:29-33. doi: 10.1016/j.ghir.2017.12.003. Epub 2017 Dec 6. Growth Horm IGF Res. 2018. PMID: 29249624 Review.
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.
Amato LGL, Montenegro LR, Lerario AM, Jorge AAL, Guerra Junior G, Schnoll C, Renck AC, Trarbach EB, Costa EMF, Mendonca BB, Latronico AC, Silveira LFG. Amato LGL, et al. Among authors: jorge aal. Eur J Endocrinol. 2019 Aug 1;181(2):103-119. doi: 10.1530/EJE-18-0764. Eur J Endocrinol. 2019. PMID: 31200363
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MF, Heath KE, Jorge AA, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Pruhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin EL, Swartz J, Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A. Gkourogianni A, et al. Among authors: jorge aa. J Clin Endocrinol Metab. 2017 Feb 1;102(2):460-469. doi: 10.1210/jc.2016-3313. J Clin Endocrinol Metab. 2017. PMID: 27870580 Free PMC article.
Growth hormone therapy in children; research and practice - A review.
Collett-Solberg PF, Jorge AAL, Boguszewski MCS, Miller BS, Choong CSY, Cohen P, Hoffman AR, Luo X, Radovick S, Saenger P. Collett-Solberg PF, et al. Among authors: jorge aal. Growth Horm IGF Res. 2019 Feb;44:20-32. doi: 10.1016/j.ghir.2018.12.004. Epub 2018 Dec 26. Growth Horm IGF Res. 2019. PMID: 30605792 Review.
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. Among authors: jorge aa. J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795793
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke HJ, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge AM, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C. Lessel D, et al. Among authors: jorge aal. Brain. 2018 Aug 1;141(8):2299-2311. doi: 10.1093/brain/awy173. Brain. 2018. PMID: 29985992 Free PMC article.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Grüning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Işık E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM; Genomics England Research Consortium, Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M. Lin YC, et al. Among authors: jorge aal. Am J Hum Genet. 2021 Jan 7;108(1):115-133. doi: 10.1016/j.ajhg.2020.11.015. Epub 2020 Dec 11. Am J Hum Genet. 2021. PMID: 33308444 Free PMC article.
Genetic causes of isolated short stature.
Vasques GA, Andrade NLM, Jorge AAL. Vasques GA, et al. Among authors: jorge aal. Arch Endocrinol Metab. 2019 Feb;63(1):70-78. doi: 10.20945/2359-3997000000105. Arch Endocrinol Metab. 2019. PMID: 30864634 Review.
156 results