224 related articles for article (PubMed ID: 30848064)
1. Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.
Le TN; Williams SR; Alaimo JT; Elsea SH
Am J Med Genet A; 2019 May; 179(5):782-791. PubMed ID: 30848064
[TBL] [Abstract][Full Text] [Related]
2. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.
Williams SR; Aldred MA; Der Kaloustian VM; Halal F; Gowans G; McLeod DR; Zondag S; Toriello HV; Magenis RE; Elsea SH
Am J Hum Genet; 2010 Aug; 87(2):219-28. PubMed ID: 20691407
[TBL] [Abstract][Full Text] [Related]
3. Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.
Villavicencio-Lorini P; Klopocki E; Trimborn M; Koll R; Mundlos S; Horn D
Eur J Hum Genet; 2013 Jul; 21(7):743-8. PubMed ID: 23188045
[TBL] [Abstract][Full Text] [Related]
4. Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals.
Wheeler PG; Huang D; Dai Z
Am J Med Genet A; 2014 Jul; 164A(7):1826-9. PubMed ID: 24715439
[TBL] [Abstract][Full Text] [Related]
5. Genotype-Phenotype Correlation of Distal 2q37 Deletions.
Iwata-Otsubo A; Darr KR; Torres-Martinez W; Hodge JC
Cytogenet Genome Res; 2022; 162(5):237-243. PubMed ID: 36516793
[TBL] [Abstract][Full Text] [Related]
6. Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia.
Ogura K; Takeshita K; Arakawa C; Shimojima K; Yamamoto T
Am J Med Genet B Neuropsychiatr Genet; 2014 Dec; 165B(8):684-90. PubMed ID: 25329715
[TBL] [Abstract][Full Text] [Related]
7. The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome.
Gürsoy S; Kutbay YB; Özdemir TR; Hazan F
Turk J Pediatr; 2019; 61(4):589-593. PubMed ID: 31990478
[TBL] [Abstract][Full Text] [Related]
8. Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.
Morris B; Etoubleau C; Bourthoumieu S; Reynaud-Perrine S; Laroche C; Lebbar A; Yardin C; Elsea SH
Am J Med Genet A; 2012 Aug; 158A(8):2015-20. PubMed ID: 22753018
[TBL] [Abstract][Full Text] [Related]
9. The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Leroy C; Landais E; Briault S; David A; Tassy O; Gruchy N; Delobel B; Grégoire MJ; Leheup B; Taine L; Lacombe D; Delrue MA; Toutain A; Paubel A; Mugneret F; Thauvin-Robinet C; Arpin S; Le Caignec C; Jonveaux P; Beri M; Leporrier N; Motte J; Fiquet C; Brichet O; Mozelle-Nivoix M; Sabouraud P; Golovkine N; Bednarek N; Gaillard D; Doco-Fenzy M
Eur J Hum Genet; 2013 Jun; 21(6):602-12. PubMed ID: 23073310
[TBL] [Abstract][Full Text] [Related]
10. Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).
Shim SH; Shim JS; Min K; Lee HS; Park JE; Park SH; Hwang E; Kim M
Gene; 2014 Jan; 534(1):100-6. PubMed ID: 24095776
[TBL] [Abstract][Full Text] [Related]
11. Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
Gavril EC; Nucă I; Pânzaru MC; Ivanov AV; Mihai CT; Antoci LM; Ciobanu CG; Rusu C; Popescu R
Genes (Basel); 2023 Feb; 14(2):. PubMed ID: 36833393
[TBL] [Abstract][Full Text] [Related]
12. Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size.
Fisch GS; Falk RE; Carey JC; Imitola J; Sederberg M; Caravalho KS; South S
Am J Med Genet A; 2016 Sep; 170(9):2282-91. PubMed ID: 27282419
[TBL] [Abstract][Full Text] [Related]
13. The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.
Jean-Marçais N; Decamp M; Gérard M; Ribault V; Andrieux J; Kottler ML; Plessis G
Am J Med Genet A; 2015 Jan; 167A(1):185-9. PubMed ID: 25402011
[TBL] [Abstract][Full Text] [Related]
14. Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.
Spielmann M; Marx S; Barbi G; Flöttmann R; Kehrer-Sawatzki H; König R; Horn D; Mundlos S; Nader S; Borck G
Am J Med Genet A; 2016 May; 170A(5):1202-7. PubMed ID: 26822876
[TBL] [Abstract][Full Text] [Related]
15. Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
Girirajan S; Vlangos CN; Szomju BB; Edelman E; Trevors CD; Dupuis L; Nezarati M; Bunyan DJ; Elsea SH
Genet Med; 2006 Jul; 8(7):417-27. PubMed ID: 16845274
[TBL] [Abstract][Full Text] [Related]
16. Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4.
Moretti PN; Figueiredo ACV; Saliba A; Versiani BR; Oliveira SF; Pic-Taylor A; Mazzeu JF
Am J Med Genet A; 2020 Aug; 182(8):1861-1864. PubMed ID: 32432407
[No Abstract] [Full Text] [Related]
17. HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype.
Severi G; Bonora E; Perri A; Scarano E; Mazzanti L; Isidori F; Zuntini R; Menabò S; Graziano C
Cytogenet Genome Res; 2019; 157(3):135-140. PubMed ID: 30933954
[TBL] [Abstract][Full Text] [Related]
18. Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region.
Chaabouni M; Le Merrer M; Raoul O; Prieur M; de Blois MC; Philippe A; Vekemans M; Romana SP
Eur J Med Genet; 2006; 49(3):255-63. PubMed ID: 16762827
[TBL] [Abstract][Full Text] [Related]
19. Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.
Sakai Y; Souzaki R; Yamamoto H; Matsushita Y; Nagata H; Ishizaki Y; Torisu H; Oda Y; Taguchi T; Shaw CA; Hara T
BMC Med Genomics; 2014 Apr; 7():19. PubMed ID: 24755370
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
