232 related articles for article (PubMed ID: 24038875)
1. Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.
Izumi K; Housam R; Kapadia C; Stallings VA; Medne L; Shaikh TH; Kublaoui BM; Zackai EH; Grimberg A
Am J Med Genet A; 2013 Dec; 161A(12):3137-43. PubMed ID: 24038875
[TBL] [Abstract][Full Text] [Related]
2. A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.
Varela MC; Simões-Sato AY; Kim CA; Bertola DR; De Castro CI; Koiffmann CP
Eur J Med Genet; 2006; 49(4):298-305. PubMed ID: 16829351
[TBL] [Abstract][Full Text] [Related]
3. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
El Khattabi L; Guimiot F; Pipiras E; Andrieux J; Baumann C; Bouquillon S; Delezoide AL; Delobel B; Demurger F; Dessuant H; Drunat S; Dubourg C; Dupont C; Faivre L; Holder-Espinasse M; Jaillard S; Journel H; Lyonnet S; Malan V; Masurel A; Marle N; Missirian C; Moerman A; Moncla A; Odent S; Palumbo O; Palumbo P; Ravel A; Romana S; Tabet AC; Valduga M; Vermelle M; Carella M; Dupont JM; Verloes A; Benzacken B; Delahaye A
Eur J Hum Genet; 2015 Aug; 23(8):1010-8. PubMed ID: 25351778
[TBL] [Abstract][Full Text] [Related]
4. Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients.
Geets E; Zegers D; Beckers S; Verrijken A; Massa G; Van Hoorenbeeck K; Verhulst S; Van Gaal L; Van Hul W
Mol Genet Metab; 2016 Mar; 117(3):383-8. PubMed ID: 26795956
[TBL] [Abstract][Full Text] [Related]
5. Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype.
Faivre L; Cormier-Daire V; Lapierre JM; Colleaux L; Jacquemont S; Geneviéve D; Saunier P; Munnich A; Turleau C; Romana S; Prieur M; De Blois MC; Vekemans M
J Med Genet; 2002 Aug; 39(8):594-6. PubMed ID: 12161602
[No Abstract] [Full Text] [Related]
6. Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.
Bonnefond A; Raimondo A; Stutzmann F; Ghoussaini M; Ramachandrappa S; Bersten DC; Durand E; Vatin V; Balkau B; Lantieri O; Raverdy V; Pattou F; Van Hul W; Van Gaal L; Peet DJ; Weill J; Miller JL; Horber F; Goldstone AP; Driscoll DJ; Bruning JB; Meyre D; Whitelaw ML; Froguel P
J Clin Invest; 2013 Jul; 123(7):3037-41. PubMed ID: 23778136
[TBL] [Abstract][Full Text] [Related]
7. A 5-Mb microdeletion at 6q16.1-q16.3 with SIM gene deletion and obesity.
Wang JC; Turner L; Lomax B; Eydoux P
Am J Med Genet A; 2008 Nov; 146A(22):2975-8. PubMed ID: 18925680
[No Abstract] [Full Text] [Related]
8. Interstitial 6q deletion in a patient presenting with drug-resistant epilepsy and Prader-Willi like phenotype: An electroclinical description with literature review.
Cutillo G; Bonacchi R; Cecchetti G; Bellini A; Vabanesi M; Zambon A; Natali Sora MG; Baldoli C; Del Carro U; Minicucci F; Fanelli GF; Filippi M
Seizure; 2023 Jul; 109():45-49. PubMed ID: 37210930
[TBL] [Abstract][Full Text] [Related]
9. Interstitial 6q deletion and Prader-Willi-like phenotype.
Stein CK; Stred SE; Thomson LL; Smith FC; Hoo JJ
Clin Genet; 1996 Jun; 49(6):306-10. PubMed ID: 8884080
[TBL] [Abstract][Full Text] [Related]
10. Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.
Bonaglia MC; Ciccone R; Gimelli G; Gimelli S; Marelli S; Verheij J; Giorda R; Grasso R; Borgatti R; Pagone F; Rodrìguez L; Martinez-Frias ML; van Ravenswaaij C; Zuffardi O
Eur J Hum Genet; 2008 Dec; 16(12):1443-9. PubMed ID: 18648397
[TBL] [Abstract][Full Text] [Related]
11. Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.
Blackburn PR; Sullivan AE; Gerassimou AG; Kleinendorst L; Bersten DC; Cooiman M; Harris KG; Wierenga KJ; Klee EW; van Gerpen JA; Ross OA; van Haelst MM; Whitelaw ML; Caulfield TR; Atwal PS
J Clin Endocrinol Metab; 2020 Jan; 105(1):. PubMed ID: 31872862
[TBL] [Abstract][Full Text] [Related]
12. Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.
Gilhuis HJ; van Ravenswaaij CM; Hamel BJ; Gabreëls FJ
Eur J Paediatr Neurol; 2000; 4(1):39-43. PubMed ID: 10701104
[TBL] [Abstract][Full Text] [Related]
13. DNA sequencing and copy number variation analysis of MCHR2 in a cohort of Prader Willi like (PWL) patients.
Geets E; Aerts E; Verrijken A; Van Hoorenbeeck K; Verhulst S; Van Gaal L; Van Hul W
Obes Res Clin Pract; 2018; 12(2):158-166. PubMed ID: 29066024
[TBL] [Abstract][Full Text] [Related]
14. Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
Kasher PR; Schertz KE; Thomas M; Jackson A; Annunziata S; Ballesta-Martinez MJ; Campeau PM; Clayton PE; Eaton JL; Granata T; Guillén-Navarro E; Hernando C; Laverriere CE; Liedén A; Villa-Marcos O; McEntagart M; Nordgren A; Pantaleoni C; Pebrel-Richard C; Sarret C; Sciacca FL; Wright R; Kerr B; Glasgow E; Banka S
Am J Hum Genet; 2016 Feb; 98(2):363-72. PubMed ID: 26833329
[TBL] [Abstract][Full Text] [Related]
15. Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
Rosenfeld JA; Amrom D; Andermann E; Andermann F; Veilleux M; Curry C; Fisher J; Deputy S; Aylsworth AS; Powell CM; Manickam K; Heese B; Maisenbacher M; Stevens C; Ellison JW; Upton S; Moeschler J; Torres-Martinez W; Stevens A; Marion R; Pereira EM; Babcock M; Morrow B; Sahoo T; Lamb AN; Ballif BC; Paciorkowski AR; Shaffer LG
Neurogenetics; 2012 Feb; 13(1):31-47. PubMed ID: 22218741
[TBL] [Abstract][Full Text] [Related]
16. De novo interstitial deletion q16.2q21 on chromosome 6.
Villa A; Urioste M; Bofarull JM; Martínez-Frías ML
Am J Med Genet; 1995 Jan; 55(3):379-83. PubMed ID: 7726240
[TBL] [Abstract][Full Text] [Related]
17. Prader Willi syndrome with hypothyroidism.
Bhate MS; Robertson PE; Davison EV; Brummitt JA
J Ment Defic Res; 1989 Jun; 33 ( Pt 3)():235-44. PubMed ID: 2754723
[TBL] [Abstract][Full Text] [Related]
18. Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.
Holder JL; Butte NF; Zinn AR
Hum Mol Genet; 2000 Jan; 9(1):101-8. PubMed ID: 10587584
[TBL] [Abstract][Full Text] [Related]
19. Severe early onset obesity and hypopituitarism in a child with a novel SIM1 gene mutation.
Gonsalves R; Aleck K; Newbern D; Shaibi G; Kapadia C; Oatman O
Endocrinol Diabetes Metab Case Rep; 2020 Oct; 2020():. PubMed ID: 33434169
[TBL] [Abstract][Full Text] [Related]
20. Prader-Willi syndrome with chromosome 15 interstitial deletion: report of one case.
Hwu WL; Tsai WY; Lee JS; Wang PJ; Wang TR
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1991; 32(2):105-11. PubMed ID: 2063683
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]