190 related articles for article (PubMed ID: 33275732)
21. Autosomal dominant PIK3R1 mutations cause SHORT syndrome.
Chung BK; Gibson WT
Clin Genet; 2014 Mar; 85(3):228-9. PubMed ID: 24033310
[TBL] [Abstract][Full Text] [Related]
22. Dysfunctional telomeres and hematological disorders.
Fiorini E; Santoni A; Colla S
Differentiation; 2018; 100():1-11. PubMed ID: 29331736
[TBL] [Abstract][Full Text] [Related]
23. The molecular genetics of the telomere biology disorders.
Bertuch AA
RNA Biol; 2016 Aug; 13(8):696-706. PubMed ID: 26400640
[TBL] [Abstract][Full Text] [Related]
24. The wide-ranging clinical implications of the short telomere syndromes.
Barbaro PM; Ziegler DS; Reddel RR
Intern Med J; 2016 Apr; 46(4):393-403. PubMed ID: 26247919
[TBL] [Abstract][Full Text] [Related]
25. Diagnostic utility of telomere length testing in a hospital-based setting.
Alder JK; Hanumanthu VS; Strong MA; DeZern AE; Stanley SE; Takemoto CM; Danilova L; Applegate CD; Bolton SG; Mohr DW; Brodsky RA; Casella JF; Greider CW; Jackson JB; Armanios M
Proc Natl Acad Sci U S A; 2018 Mar; 115(10):E2358-E2365. PubMed ID: 29463756
[TBL] [Abstract][Full Text] [Related]
26. Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up.
Yin X; Liu J; Feng R; Xu M; Liu J
J Diabetes Investig; 2021 Oct; 12(10):1919-1922. PubMed ID: 33742773
[TBL] [Abstract][Full Text] [Related]
27. Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations.
Hureaux M; Molin A; Jay N; Saliou AH; Spaggiari E; Salomon R; Benachi A; Vargas-Poussou R; Heidet L
Pediatr Nephrol; 2018 Oct; 33(10):1723-1729. PubMed ID: 29959532
[TBL] [Abstract][Full Text] [Related]
28. Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.
Petrovski S; Parrott RE; Roberts JL; Huang H; Yang J; Gorentla B; Mousallem T; Wang E; Armstrong M; McHale D; MacIver NJ; Goldstein DB; Zhong XP; Buckley RH
J Clin Immunol; 2016 Jul; 36(5):462-71. PubMed ID: 27076228
[TBL] [Abstract][Full Text] [Related]
29. Short Telomere Syndromes in Clinical Practice: Bridging Bench and Bedside.
Mangaonkar AA; Patnaik MM
Mayo Clin Proc; 2018 Jul; 93(7):904-916. PubMed ID: 29804726
[TBL] [Abstract][Full Text] [Related]
30. Clinical features and respiratory complications in Myhre syndrome.
McGowan R; Gulati R; McHenry P; Cooke A; Butler S; Keng WT; Murday V; Whiteford M; Dikkers FG; Sikkema-Raddatz B; van Essen T; Tolmie J
Eur J Med Genet; 2011; 54(6):e553-9. PubMed ID: 21816239
[TBL] [Abstract][Full Text] [Related]
31. Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.
Jobst-Schwan T; Pannes A; Schlingmann KP; Eckardt KU; Beck BB; Wiesener MS
Kidney Blood Press Res; 2015; 40(5):443-51. PubMed ID: 26304832
[TBL] [Abstract][Full Text] [Related]
32. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
Reis LM; Tyler RC; Schilter KF; Abdul-Rahman O; Innis JW; Kozel BA; Schneider AS; Bardakjian TM; Lose EJ; Martin DM; Broeckel U; Semina EV
Hum Genet; 2011 Oct; 130(4):495-504. PubMed ID: 21340693
[TBL] [Abstract][Full Text] [Related]
33. Cancer spectrum and outcomes in the Mendelian short telomere syndromes.
Schratz KE; Haley L; Danoff SK; Blackford AL; DeZern AE; Gocke CD; Duffield AS; Armanios M
Blood; 2020 May; 135(22):1946-1956. PubMed ID: 32076714
[TBL] [Abstract][Full Text] [Related]
34. Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes.
Solheim MH; Winnay JN; Batista TM; Molven A; Njølstad PR; Kahn CR
Diabetes; 2018 Jul; 67(7):1297-1309. PubMed ID: 29724723
[TBL] [Abstract][Full Text] [Related]
35. Telomere dysfunction and hematologic disorders.
Paiva RM; Calado RT
Prog Mol Biol Transl Sci; 2014; 125():133-57. PubMed ID: 24993701
[TBL] [Abstract][Full Text] [Related]
36. Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.
Gorgy AI; Jonassaint NL; Stanley SE; Koteish A; DeZern AE; Walter JE; Sopha SC; Hamilton JP; Hoover-Fong J; Chen AR; Anders RA; Kamel IR; Armanios M
Chest; 2015 Oct; 148(4):1019-1026. PubMed ID: 26158642
[TBL] [Abstract][Full Text] [Related]
37. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.
Ballew BJ; Savage SA
Expert Rev Hematol; 2013 Jun; 6(3):327-37. PubMed ID: 23782086
[TBL] [Abstract][Full Text] [Related]
38. Telomeres and marrow failure.
Calado RT
Hematology Am Soc Hematol Educ Program; 2009; ():338-43. PubMed ID: 20008219
[TBL] [Abstract][Full Text] [Related]
39. Idiopathic Infantile Hypercalcemia, Presenting in Adulthood--No Longer Idiopathic Nor Infantile: Two Case Reports and Review.
Tray KA; Laut J; Saidi A
Conn Med; 2015; 79(10):593-7. PubMed ID: 26731879
[TBL] [Abstract][Full Text] [Related]
40. Short telomeres, telomeropathy, and subclinical extrapulmonary organ damage in patients with interstitial lung disease.
George G; Rosas IO; Cui Y; McKane C; Hunninghake GM; Camp PC; Raby BA; Goldberg HJ; El-Chemaly S
Chest; 2015 Jun; 147(6):1549-1557. PubMed ID: 25393420
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
