BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

137 related articles for article (PubMed ID: 19324102)

  • 1. A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb.
    Pollazzon M; Grosso S; Papa FT; Katzaki E; Marozza A; Mencarelli MA; Uliana V; Balestri P; Mari F; Renieri A
    Eur J Med Genet; 2009; 52(2-3):131-3. PubMed ID: 19324102
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.
    Tyshchenko N; Hackmann K; Gerlach EM; Neuhann T; Schrock E; Tinschert S
    Eur J Med Genet; 2009; 52(2-3):128-30. PubMed ID: 19298871
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An additional patient with 3q27.3 microdeletion syndrome.
    Castori M; Bottillo I; Laino L; Morlino S; Grammatico B; Grammatico P
    J Child Neurol; 2015 Mar; 30(4):500-4. PubMed ID: 25038125
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].
    Seo EJ; Jun KR; Yoo HW; Yoo HK; Lee JO
    Korean J Lab Med; 2010 Feb; 30(1):70-5. PubMed ID: 20197726
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
    Huynh MT; Lambert AS; Tosca L; Petit F; Philippe C; Parisot F; Benoît V; Linglart A; Brisset S; Tran CT; Tachdjian G; Receveur A
    Eur J Med Genet; 2018 Aug; 61(8):459-464. PubMed ID: 29549028
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 3q29 microdeletion syndrome associated with developmental delay and pulmonary stenosis: a case report.
    Kaba D; Çelik ZY
    Turk J Pediatr; 2022; 64(5):925-931. PubMed ID: 36305444
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel features of 3q29 deletion syndrome: Results from the 3q29 registry.
    Glassford MR; Rosenfeld JA; Freedman AA; Zwick ME; Mulle JG;
    Am J Med Genet A; 2016 Apr; 170A(4):999-1006. PubMed ID: 26738761
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.
    Redon R; Baujat G; Sanlaville D; Le Merrer M; Vekemans M; Munnich A; Carter NP; Cormier-Daire V; Colleaux L
    Eur J Hum Genet; 2006 Jun; 14(6):759-67. PubMed ID: 16570072
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Familial inheritance of the 3q29 microdeletion syndrome: case report and review.
    Khan WA; Cohen N; Scott SA; Pereira EM
    BMC Med Genomics; 2019 Mar; 12(1):51. PubMed ID: 30885185
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder.
    Clayton-Smith J; Giblin C; Smith RA; Dunn C; Willatt L
    Clin Dysmorphol; 2010 Jul; 19(3):128-132. PubMed ID: 20453639
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome.
    Dasouki M; Roberts J; Santiago A; Saadi I; Hovanes K
    Eur J Med Genet; 2014 Feb; 57(2-3):76-80. PubMed ID: 24462885
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
    Thevenon J; Callier P; Poquet H; Bache I; Menten B; Malan V; Cavaliere ML; Girod JP; Thauvin-Robinet C; El Chehadeh S; Pinoit JM; Huet F; Verges B; Petit JM; Mosca-Boidron AL; Marle N; Mugneret F; Masurel-Paulet A; Novelli A; Tümer Z; Loeys B; Lyonnet S; Faivre L
    J Med Genet; 2014 Jan; 51(1):21-7. PubMed ID: 24133203
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.
    Digilio MC; Bernardini L; Mingarelli R; Capolino R; Capalbo A; Giuffrida MG; Versacci P; Novelli A; Dallapiccola B
    Am J Med Genet A; 2009 Aug; 149A(8):1777-81. PubMed ID: 19610115
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion.
    Pelle A; Modena P; Cavallini A; Selicorni A
    Clin Dysmorphol; 2020 Apr; 29(2):97-100. PubMed ID: 31929334
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
    Bonnet C; Andrieux J; Béri-Dexheimer M; Leheup B; Boute O; Manouvrier S; Delobel B; Copin H; Receveur A; Mathieu M; Thiriez G; Le Caignec C; David A; de Blois MC; Malan V; Philippe A; Cormier-Daire V; Colleaux L; Flori E; Dollfus H; Pelletier V; Thauvin-Robinet C; Masurel-Paulet A; Faivre L; Tardieu M; Bahi-Buisson N; Callier P; Mugneret F; Edery P; Jonveaux P; Sanlaville D
    J Med Genet; 2010 Jun; 47(6):377-84. PubMed ID: 20522426
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.
    Papoulidis I; Paspaliaris V; Papageorgiou E; Siomou E; Dagklis T; Sotiriou S; Thomaidis L; Manolakos E
    Cytogenet Genome Res; 2015; 145(1):19-24. PubMed ID: 25925190
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Atypical Prader-Willi and 15q13.3 Microdeletion Syndromes in a Patient with an Unbalanced Translocation.
    Colovati MES; Grossi BM; Nunes GD; Fock RA; Guedes DR; Melaragno MI; Cernach MCSP
    Cytogenet Genome Res; 2019; 158(4):192-198. PubMed ID: 31394532
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.
    Willatt L; Cox J; Barber J; Cabanas ED; Collins A; Donnai D; FitzPatrick DR; Maher E; Martin H; Parnau J; Pindar L; Ramsay J; Shaw-Smith C; Sistermans EA; Tettenborn M; Trump D; de Vries BB; Walker K; Raymond FL
    Am J Hum Genet; 2005 Jul; 77(1):154-60. PubMed ID: 15918153
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion.
    Liang JS; Shimojima K; Ohno K; Sugiura C; Une Y; Ohno K; Yamamoto T
    J Med Genet; 2009 Sep; 46(9):645-7. PubMed ID: 19724011
    [No Abstract]   [Full Text] [Related]  

  • 20. Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review.
    Quintero-Rivera F; Sharifi-Hannauer P; Martinez-Agosto JA
    Am J Med Genet A; 2010 Oct; 152A(10):2459-67. PubMed ID: 20830797
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.