BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 36516793)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. A family with brachydactyly mental retardation syndrome with a missense variant in
    Takeyari S; Yamamoto K; Fujiwara M; Ohata Y; Kitaoka T; Kubota T; Nagata M; Ishihara Y; Miyashita Y; Asano Y; Ozono K
    Clin Pediatr Endocrinol; 2023; 32(2):105-109. PubMed ID: 37020696
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2.
    Tammachote R; Kingsuwannapong N; Tongkobpetch S; Srichomthong C; Yeetong P; Kingwatanakul P; Monico CG; Suphapeetiporn K; Shotelersuk V
    Am J Med Genet A; 2012 Sep; 158A(9):2124-30. PubMed ID: 22821680
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report.
    Giraldo-Ocampo S; Pachajoa H
    BMC Pediatr; 2022 Oct; 22(1):569. PubMed ID: 36192675
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism.
    Hacıhamdioğlu B; Arslan M; Sarı E; Kurtçu K; Yesilkaya E
    J Pediatr Endocrinol Metab; 2013; 26(7-8):793-5. PubMed ID: 23645122
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3.
    Mehraein Y; Pfob M; Steinlein O; Aichinger E; Eggert M; Bubendorff V; Mannhart A; Müller S
    Cytogenet Genome Res; 2015; 146(1):33-8. PubMed ID: 26112830
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.