151 related articles for article (PubMed ID: 29904178)
1. The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.
Engwerda A; Frentz B; den Ouden AL; Flapper BCT; Swertz MA; Gerkes EH; Plantinga M; Dijkhuizen T; van Ravenswaaij-Arts CMA
Eur J Hum Genet; 2018 Oct; 26(10):1478-1489. PubMed ID: 29904178
[TBL] [Abstract][Full Text] [Related]
2. The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Engwerda A; Kerstjens-Frederikse WS; Corsten-Janssen N; Dijkhuizen T; van Ravenswaaij-Arts CMA
Orphanet J Rare Dis; 2023 Mar; 18(1):59. PubMed ID: 36935482
[TBL] [Abstract][Full Text] [Related]
3. The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
Rraku E; Kerstjens-Frederikse WS; Swertz MA; Dijkhuizen T; van Ravenswaaij-Arts CMA; Engwerda A
Orphanet J Rare Dis; 2023 Mar; 18(1):68. PubMed ID: 36964621
[TBL] [Abstract][Full Text] [Related]
4. Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.
Klein OD; Cotter PD; Moore MW; Zanko A; Gilats M; Epstein CJ; Conte F; Rauen KA
Clin Genet; 2007 Mar; 71(3):260-6. PubMed ID: 17309649
[TBL] [Abstract][Full Text] [Related]
5. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
Becker K; Di Donato N; Holder-Espinasse M; Andrieux J; Cuisset JM; Vallée L; Plessis G; Jean N; Delobel B; Thuresson AC; Annerén G; Ravn K; Tümer Z; Tinschert S; Schrock E; Jønch AE; Hackmann K
Eur J Med Genet; 2012; 55(8-9):490-7. PubMed ID: 22561202
[TBL] [Abstract][Full Text] [Related]
6. A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15).
Passarge E
Cytogenet Cell Genet; 2000; 91(1-4):192-8. PubMed ID: 11173855
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.
Salpietro V; Ruggieri M; Mankad K; Di Rosa G; Granata F; Loddo I; Moschella E; Calabro MP; Capalbo A; Bernardini L; Novelli A; Polizzi A; Seidler DG; Arrigo T; Briuglia S
Am J Med Genet A; 2015 Sep; 167A(9):2042-51. PubMed ID: 25940952
[TBL] [Abstract][Full Text] [Related]
9. Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.
Van Esch H; Rosser EM; Janssens S; Van Ingelghem I; Loeys B; Menten B
J Med Genet; 2010 Oct; 47(10):717-20. PubMed ID: 20685673
[TBL] [Abstract][Full Text] [Related]
10. Analysis of chromosome 6q deletion in EBV-associated NK cell leukaemia/lymphoma.
Ohshima K; Haraokaa S; Ishihara S; Ohgami A; Yoshioka S; Suzumiya J; Kikuchi M
Leuk Lymphoma; 2002 Feb; 43(2):293-300. PubMed ID: 11999560
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. New insights into the phenotypes of 6q deletions.
Hopkin RJ; Schorry E; Bofinger M; Milatovich A; Stern HJ; Jayne C; Saal HM
Am J Med Genet; 1997 Jun; 70(4):377-86. PubMed ID: 9182778
[TBL] [Abstract][Full Text] [Related]
13. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
Fregeau B; Kim BJ; Hernández-García A; Jordan VK; Cho MT; Schnur RE; Monaghan KG; Juusola J; Rosenfeld JA; Bhoj E; Zackai EH; Sacharow S; Barañano K; Bosch DGM; de Vries BBA; Lindstrom K; Schroeder A; James P; Kulch P; Lalani SR; van Haelst MM; van Gassen KLI; van Binsbergen E; Barkovich AJ; Scott DA; Sherr EH
Am J Hum Genet; 2016 May; 98(5):963-970. PubMed ID: 27087320
[TBL] [Abstract][Full Text] [Related]
14. An emerging phenotype of proximal 11q deletions.
Melis D; Genesio R; Cozzolino M; Del Giudice E; Mormile A; Imperati F; Ronga V; Della Casa R; Nitsch L; Andria G
Eur J Med Genet; 2010; 53(5):340-3. PubMed ID: 20688202
[TBL] [Abstract][Full Text] [Related]
15. Report of two cases of distal deletion of the long arm of chromosome 6.
Stevens CA; Fineman RM; Breg WR; Silken AB
Am J Med Genet; 1988 Apr; 29(4):807-14. PubMed ID: 3400725
[TBL] [Abstract][Full Text] [Related]
16. Ophthalmologic abnormalities in a de novo terminal 6q deletion.
Abu-Amero KK; Hellani A; Salih MA; Al Hussain A; al Obailan M; Zidan G; Alorainy IA; Bosley TM
Ophthalmic Genet; 2010 Mar; 31(1):1-11. PubMed ID: 20141352
[TBL] [Abstract][Full Text] [Related]
17. A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects.
Shimojima K; Okamoto N; Yamamoto T
Congenit Anom (Kyoto); 2018 Jan; 58(1):36-38. PubMed ID: 28378413
[TBL] [Abstract][Full Text] [Related]
18. A malformed girl with a de novo proximal 6q deletion.
Lonardo F; Colantuoni M; Festa B; Gentile G; Guerritore G; Perone L; Santulli B; Ventruto V
Ann Genet; 1988; 31(1):57-9. PubMed ID: 3281572
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.
Machida O; Shimojima KY; Shiihara T; Akamine S; Kira R; Hasegawa Y; Nishi E; Okamoto N; Nagata S; Yamamoto T
Intractable Rare Dis Res; 2022 Aug; 11(3):143-148. PubMed ID: 36200032
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]