160 related articles for article (PubMed ID: 36200032)
21. Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features.
Tamura T; Yamamoto Shimojima K; Shiihara T; Sakazume S; Okamoto N; Yagasaki H; Morioka I; Kanno H; Yamamoto T
Am J Med Genet A; 2023 Feb; 191(2):400-407. PubMed ID: 36345653
[TBL] [Abstract][Full Text] [Related]
22. Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.
Tassano E; Mirabelli-Badenier M; Veneselli E; Puliti A; Lerone M; Vaccari CM; Morana G; Porta S; Gimelli G; Cuoco C
Mol Cytogenet; 2015; 8():31. PubMed ID: 26052347
[TBL] [Abstract][Full Text] [Related]
23. Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature.
Deng R; McCalman MT; Bossuyt TP; Barakat TS
Front Genet; 2021; 12():716874. PubMed ID: 34539745
[TBL] [Abstract][Full Text] [Related]
24. Deletions of the long arm of chromosome 6: two new cases and review of the literature.
Young RS; Fidone GS; Reider-Garcia PA; Hansen KL; McCombs JL; Moore CM
Am J Med Genet; 1985 Jan; 20(1):21-9. PubMed ID: 3881954
[TBL] [Abstract][Full Text] [Related]
25. Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay.
Montagne L; Raimondo A; Delobel B; Duban-Bedu B; Noblet FS; Dechaume A; Bersten DC; Meyre D; Whitelaw ML; Froguel P; Bonnefond A
Obesity (Silver Spring); 2014 Dec; 22(12):2621-4. PubMed ID: 25234154
[TBL] [Abstract][Full Text] [Related]
26. Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.
Ronzoni L; Tagliaferri F; Tucci A; Baccarin M; Esposito S; Milani D
Am J Med Genet A; 2016 May; 170A(5):1257-61. PubMed ID: 26754677
[TBL] [Abstract][Full Text] [Related]
27. Haploinsufficiency of
Machida O; Sakamoto H; Yamamoto KS; Hasegawa Y; Nii S; Okada H; Nishikawa K; Sumimoto SI; Nishi E; Okamoto N; Yamamoto T
Intractable Rare Dis Res; 2024 Feb; 13(1):36-41. PubMed ID: 38404736
[TBL] [Abstract][Full Text] [Related]
28. Expanded Prader-Willi syndrome due to chromosome 15q11.2-14 deletion: report and a review of literature.
Liu AP; Tang WF; Lau ET; Chan KY; Kan AS; Wong KY; Tso WW; Jalal K; Lee SL; Chau CS; Chung BH
Am J Med Genet A; 2013 Jun; 161A(6):1309-18. PubMed ID: 23633107
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. 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]
32. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
Burnside RD; Pasion R; Mikhail FM; Carroll AJ; Robin NH; Youngs EL; Gadi IK; Keitges E; Jaswaney VL; Papenhausen PR; Potluri VR; Risheg H; Rush B; Smith JL; Schwartz S; Tepperberg JH; Butler MG
Hum Genet; 2011 Oct; 130(4):517-28. PubMed ID: 21359847
[TBL] [Abstract][Full Text] [Related]
33. Genotypic and phenotypic variability of 22q11.2 microdeletions - an institutional experience.
Manno GC; Segal GS; Yu A; Xu F; Ray JW; Cooney E; Britt AD; Jain SK; Goldblum RM; Robinson SS; Dong J
AIMS Mol Sci; 2021; 8(4):257-274. PubMed ID: 34938854
[TBL] [Abstract][Full Text] [Related]
34. Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.
Hassan M; Butler MG
Eur J Med Genet; 2016 Nov; 59(11):584-589. PubMed ID: 27659713
[TBL] [Abstract][Full Text] [Related]
35. Mechanism and genotype-phenotype correlation of two proximal 6q deletions characterized using mBAND, FISH, array CGH, and DNA sequencing.
Vlckova M; Trkova M; Zemanova Z; Hancarova M; Novotna D; Raskova D; Puchmajerova A; Drabova J; Zmitkova Z; Tan Y; Sedlacek Z
Cytogenet Genome Res; 2012; 136(1):15-20. PubMed ID: 22156400
[TBL] [Abstract][Full Text] [Related]
36. 6q subtelomeric deletion: is there a recognizable syndrome?
Stevenson DA; Brothman AR; Carey JC; Chen Z; Dent KM; Bale JF; Longo N
Clin Dysmorphol; 2004 Apr; 13(2):103-106. PubMed ID: 15057127
[TBL] [Abstract][Full Text] [Related]
37. Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.
Shukla A; Hebbar M; Harms FL; Kadavigere R; Girisha KM; Kutsche K
Am J Med Genet A; 2016 Nov; 170(11):2998-3003. PubMed ID: 27191798
[TBL] [Abstract][Full Text] [Related]
38. Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities.
Rocha CF; Paiva CL
Genet Mol Res; 2014 Mar; 13(1):2290-8. PubMed ID: 24737477
[TBL] [Abstract][Full Text] [Related]
39. First Case Report of Prader-Willi-Like Syndrome in Colombia.
Candelo E; Feinstein MM; Ramirez-Montaño D; Gomez JF; Pachajoa H
Front Genet; 2018; 9():98. PubMed ID: 29619043
[No Abstract] [Full Text] [Related]
40. Proximal 6q interstitial deletion without severe mental retardation.
Myers SM; Challman TD
Genet Couns; 2005; 16(3):269-76. PubMed ID: 16259324
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]