145 related articles for article (PubMed ID: 31837202)
1. Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
Lin AE; Alali A; Starr LJ; Shah N; Beavis A; Pereira EM; Lindsay ME; Klugman S
Am J Med Genet A; 2020 Feb; 182(2):328-337. PubMed ID: 31837202
[TBL] [Abstract][Full Text] [Related]
2. Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
Lin AE; Michot C; Cormier-Daire V; L'Ecuyer TJ; Matherne GP; Barnes BH; Humberson JB; Edmondson AC; Zackai E; O'Connor MJ; Kaplan JD; Ebeid MR; Krier J; Krieg E; Ghoshhajra B; Lindsay ME
Am J Med Genet A; 2016 Oct; 170(10):2617-31. PubMed ID: 27302097
[TBL] [Abstract][Full Text] [Related]
3. The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity.
Li H; Cheng B; Hu X; Li C; Su J; Zhang S; Li L; Li M; Yang K; He S; Chen S; Wang H; Liu G; Shen Y
Clin Chim Acta; 2020 Jan; 500():128-134. PubMed ID: 31654632
[TBL] [Abstract][Full Text] [Related]
4. Severe constipation in a patient with Myhre syndrome: a case report.
Bassett JK; Douzgou S; Kerr B
Clin Dysmorphol; 2016 Apr; 25(2):54-7. PubMed ID: 26636501
[TBL] [Abstract][Full Text] [Related]
5. Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Michot C; Le Goff C; Mahaut C; Afenjar A; Brooks AS; Campeau PM; Destree A; Di Rocco M; Donnai D; Hennekam R; Heron D; Jacquemont S; Kannu P; Lin AE; Manouvrier-Hanu S; Mansour S; Marlin S; McGowan R; Murphy H; Raas-Rothschild A; Rio M; Simon M; Stolte-Dijkstra I; Stone JR; Sznajer Y; Tolmie J; Touraine R; van den Ende J; Van der Aa N; van Essen T; Verloes A; Munnich A; Cormier-Daire V
Eur J Hum Genet; 2014 Nov; 22(11):1272-7. PubMed ID: 24424121
[TBL] [Abstract][Full Text] [Related]
6. A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
Alagia M; Cappuccio G; Pinelli M; Torella A; Brunetti-Pierri R; Simonelli F; Limongelli G; Oppido G; Nigro V; Brunetti-Pierri N;
Am J Med Genet A; 2018 Feb; 176(2):426-430. PubMed ID: 29230941
[TBL] [Abstract][Full Text] [Related]
7. Natural history and life-threatening complications in Myhre syndrome and review of the literature.
Garavelli L; Maini I; Baccilieri F; Ivanovski I; Pollazzon M; Rosato S; Iughetti L; Unger S; Superti-Furga A; Tartaglia M
Eur J Pediatr; 2016 Oct; 175(10):1307-15. PubMed ID: 27562837
[TBL] [Abstract][Full Text] [Related]
8. Myhre syndrome.
Le Goff C; Michot C; Cormier-Daire V
Clin Genet; 2014 Jun; 85(6):503-13. PubMed ID: 24580733
[TBL] [Abstract][Full Text] [Related]
9. Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
Le Goff C; Mahaut C; Abhyankar A; Le Goff W; Serre V; Afenjar A; Destrée A; di Rocco M; Héron D; Jacquemont S; Marlin S; Simon M; Tolmie J; Verloes A; Casanova JL; Munnich A; Cormier-Daire V
Nat Genet; 2011 Dec; 44(1):85-8. PubMed ID: 22158539
[TBL] [Abstract][Full Text] [Related]
10. Retinal involvement in two unrelated patients with Myhre syndrome.
Al Ageeli E; Mignot C; Afenjar A; Whalen S; Dorison N; Mayer M; Esteva B; Dubern B; Momtchilova M; Le Gargasson JF; Bursztyn J; Héron D
Eur J Med Genet; 2012 Oct; 55(10):541-7. PubMed ID: 22683461
[TBL] [Abstract][Full Text] [Related]
11. Recurrent pericarditis in Myhre syndrome.
Picco P; Naselli A; Pala G; Marsciani A; Buoncompagni A; Martini A
Am J Med Genet A; 2013 May; 161A(5):1164-6. PubMed ID: 23610053
[TBL] [Abstract][Full Text] [Related]
12. Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.
Meerschaut I; Beyens A; Steyaert W; De Rycke R; Bonte K; De Backer T; Janssens S; Panzer J; Plasschaert F; De Wolf D; Callewaert B
Am J Med Genet A; 2019 Dec; 179(12):2494-2499. PubMed ID: 31595668
[TBL] [Abstract][Full Text] [Related]
13. Mutations of SMAD4 account for both LAPS and Myhre syndromes.
Lindor NM; Gunawardena SR; Thibodeau SN
Am J Med Genet A; 2012 Jun; 158A(6):1520-1. PubMed ID: 22585601
[No Abstract] [Full Text] [Related]
14. A case of Myhre syndrome mimicking juvenile scleroderma.
Jensen B; James R; Hong Y; Omoyinmi E; Pilkington C; Sebire NJ; Howell KJ; Brogan PA; Eleftheriou D
Pediatr Rheumatol Online J; 2020 Sep; 18(1):72. PubMed ID: 32917212
[TBL] [Abstract][Full Text] [Related]
15. First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation.
Asakura Y; Muroya K; Sato T; Kurosawa K; Nishimura G; Adachi M
Am J Med Genet A; 2012 Aug; 158A(8):1982-6. PubMed ID: 22711472
[TBL] [Abstract][Full Text] [Related]
16. Novel SMAD4 mutation causing Myhre syndrome.
Caputo V; Bocchinfuso G; Castori M; Traversa A; Pizzuti A; Stella L; Grammatico P; Tartaglia M
Am J Med Genet A; 2014 Jul; 164A(7):1835-40. PubMed ID: 24715504
[TBL] [Abstract][Full Text] [Related]
17. An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.
Gheewalla GM; Luther J; Das S; Kreher JB; Scimone ER; Wong AW; Lindsay ME; Lin AE
Am J Med Genet A; 2022 Oct; 188(10):3084-3088. PubMed ID: 35869926
[TBL] [Abstract][Full Text] [Related]
18. A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
Caputo V; Cianetti L; Niceta M; Carta C; Ciolfi A; Bocchinfuso G; Carrani E; Dentici ML; Biamino E; Belligni E; Garavelli L; Boccone L; Melis D; Andria G; Gelb BD; Stella L; Silengo M; Dallapiccola B; Tartaglia M
Am J Hum Genet; 2012 Jan; 90(1):161-9. PubMed ID: 22243968
[TBL] [Abstract][Full Text] [Related]
19. Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in
Starr LJ; Lindsay ME; Perry D; Gheewalla G; VanderLaan PA; Majid A; Strange C; Costea GC; Lungu A; Lin AE
Pediatr Dev Pathol; 2022; 25(6):611-623. PubMed ID: 36120950
[No Abstract] [Full Text] [Related]
20. Myhre syndrome: a report of six Chinese patients and literature review.
Yu KP; Luk HM; Chung BH; Lo IF
Clin Dysmorphol; 2019 Jul; 28(3):145-150. PubMed ID: 30921096
[No Abstract] [Full Text] [Related]
[Next] [New Search]