151 related articles for article (PubMed ID: 30226966)
1. EXPANSION OF THE SHORT SYNDROME PHENOTYPE IN AN ADULT PATIENT WITH UNILATERAL BASAL GANGLIA CALCIFICATION.
Salinas-Torres VM; De La O-Expinoza EA; Salinas-Torres RA
Genet Couns; 2016; 27(4):479-483. PubMed ID: 30226966
[TBL] [Abstract][Full Text] [Related]
2. Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
Bárcena C; Quesada V; De Sandre-Giovannoli A; Puente DA; Fernández-Toral J; Sigaudy S; Baban A; Lévy N; Velasco G; López-Otín C
BMC Med Genet; 2014 May; 15():51. PubMed ID: 24886349
[TBL] [Abstract][Full Text] [Related]
3. A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.
Prontera P; Micale L; Verrotti A; Napolioni V; Stangoni G; Merla G
Hum Mutat; 2015 Nov; 36(11):1043-7. PubMed ID: 26252249
[TBL] [Abstract][Full Text] [Related]
4. PIK3R1 mutations in SHORT syndrome.
Schroeder C; Riess A; Bonin M; Bauer P; Riess O; Döbler-Neumann M; Wieser S; Moog U; Tzschach A
Clin Genet; 2014 Sep; 86(3):292-4. PubMed ID: 23980586
[TBL] [Abstract][Full Text] [Related]
5. APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant.
Ramirez L; Tamayo W; Ale H
J Clin Immunol; 2020 Oct; 40(7):1020-1025. PubMed ID: 32778990
[TBL] [Abstract][Full Text] [Related]
6. PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
Thauvin-Robinet C; Auclair M; Duplomb L; Caron-Debarle M; Avila M; St-Onge J; Le Merrer M; Le Luyer B; Héron D; Mathieu-Dramard M; Bitoun P; Petit JM; Odent S; Amiel J; Picot D; Carmignac V; Thevenon J; Callier P; Laville M; Reznik Y; Fagour C; Nunes ML; Capeau J; Lascols O; Huet F; Faivre L; Vigouroux C; Rivière JB
Am J Hum Genet; 2013 Jul; 93(1):141-9. PubMed ID: 23810378
[TBL] [Abstract][Full Text] [Related]
7. SHORT syndrome in a two-year-old girl - case report.
Klatka M; Rysz I; Kozyra K; Polak A; Kołłątaj W
Ital J Pediatr; 2017 May; 43(1):44. PubMed ID: 28472977
[TBL] [Abstract][Full Text] [Related]
8. A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.
Sun L; Zhang Q; Li Q; Tang Y; Wang Y; Li X; Li N; Wang J; Wang X
BMC Med Genet; 2020 Oct; 21(1):215. PubMed ID: 33129256
[TBL] [Abstract][Full Text] [Related]
9. SHORT Syndrome: Systematic Appraisal of the Medical and Dental Phenotype.
Mubeen S; Gibson C; Mubeen R; Mansour S; Evans RD
Cleft Palate Craniofac J; 2022 Jul; 59(7):873-881. PubMed ID: 34212753
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Anticipation of familial idiopathic basal ganglia calcification?
Maeda K; Idehara R; Nakamura H; Hirai A
Intern Med; 2012; 51(8):987. PubMed ID: 22504267
[No Abstract] [Full Text] [Related]
12. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Nicolas G; Pottier C; Charbonnier C; Guyant-Maréchal L; Le Ber I; Pariente J; Labauge P; Ayrignac X; Defebvre L; Maltête D; Martinaud O; Lefaucheur R; Guillin O; Wallon D; Chaumette B; Rondepierre P; Derache N; Fromager G; Schaeffer S; Krystkowiak P; Verny C; Jurici S; Sauvée M; Vérin M; Lebouvier T; Rouaud O; Thauvin-Robinet C; Rousseau S; Rovelet-Lecrux A; Frebourg T; Campion D; Hannequin D;
Brain; 2013 Nov; 136(Pt 11):3395-407. PubMed ID: 24065723
[TBL] [Abstract][Full Text] [Related]
13. Mutations in PIK3R1 cause SHORT syndrome.
Dyment DA; Smith AC; Alcantara D; Schwartzentruber JA; Basel-Vanagaite L; Curry CJ; Temple IK; Reardon W; Mansour S; Haq MR; Gilbert R; Lehmann OJ; Vanstone MR; Beaulieu CL; ; Majewski J; Bulman DE; O'Driscoll M; Boycott KM; Innes AM
Am J Hum Genet; 2013 Jul; 93(1):158-66. PubMed ID: 23810382
[TBL] [Abstract][Full Text] [Related]
14. [Asymptomatic familial basal ganglia calcification with autosomal dominant inheritance: a family report].
Yamada N; Hayashi T
No To Hattatsu; 2000 Nov; 32(6):515-9. PubMed ID: 11144166
[TBL] [Abstract][Full Text] [Related]
15. SHORT syndrome in an adult Brazilian patient.
Gonçalves ACG; Moretti PN; Cordoba MS; Oliveira RS; Lopes FSC; Oliveira SF; Pic-Taylor A; Castro LC; Mazzeu JF
Am J Med Genet A; 2022 May; 188(5):1635-1638. PubMed ID: 35080105
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Short syndrome-an expanding phenotype.
Singh A; Arora R; Singh P; Kapoor S
Indian Pediatr; 2013 Apr; 50(4):414-6. PubMed ID: 23665600
[TBL] [Abstract][Full Text] [Related]
18. [Calcinosis of the basal ganglia and hypoparathyroidism].
Schäfer M; Ferbert A
Nervenarzt; 1998 Oct; 69(10):873-8. PubMed ID: 9834476
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. SHORT syndrome in two Chinese girls: A case report and review of the literature.
Zhang Y; Ji B; Li J; Li Y; Zhang M; Ban B
Mol Genet Genomic Med; 2020 Sep; 8(9):e1385. PubMed ID: 32602265
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
