273 related articles for article (PubMed ID: 22398643)
1. De novo deletion of 1q31.1-q32.1 in a patient with developmental delay and behavioral disorders.
Milani D; Bedeschi MF; Iascone M; Chiarelli G; Cerutti M; Menni F
Cytogenet Genome Res; 2012; 136(3):167-70. PubMed ID: 22398643
[TBL] [Abstract][Full Text] [Related]
2. Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.
Moortgat S; Verellen-Dumoulin C; Maystadt I; Parmentier B; Grisart B; Hennecker JL; Destree A
Eur J Med Genet; 2011; 54(2):177-80. PubMed ID: 21167329
[TBL] [Abstract][Full Text] [Related]
3. A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis.
Caliebe A; Martin Subero JI; Muhle H; Gesk S; Jänig U; Krause M; Plendl H; Stephani U; Siebert R; Eckmann-Scholz C
Eur J Med Genet; 2011; 54(5):e505-9. PubMed ID: 21736959
[TBL] [Abstract][Full Text] [Related]
4. De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay.
Wincent J; Schoumans J; Anderlid BM
Eur J Med Genet; 2010; 53(1):50-3. PubMed ID: 19857611
[TBL] [Abstract][Full Text] [Related]
5. Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity.
Hyder Z; Fairclough A; Douzgou S
Clin Dysmorphol; 2019 Jul; 28(3):131-136. PubMed ID: 31045593
[TBL] [Abstract][Full Text] [Related]
6. Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.
Rocca MS; Faletra F; Devescovi R; Gasparini P; Pecile V
Eur J Med Genet; 2013 Jan; 56(1):62-5. PubMed ID: 23142270
[TBL] [Abstract][Full Text] [Related]
7. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
Bremer A; Schoumans J; Nordenskjöld M; Anderlid BM; Giacobini M
Eur J Med Genet; 2009; 52(5):358-62. PubMed ID: 19576304
[TBL] [Abstract][Full Text] [Related]
8. Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus.
Rea G; McCullough S; McNerlan S; Craig B; Morrison PJ
Eur J Med Genet; 2010; 53(3):162-7. PubMed ID: 20215058
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlations.
Milani D; Sabatini C; Manzoni FM; Ajmone PF; Rigamonti C; Malacarne M; Pierluigi M; Cavani S; Costantino MA
Congenit Anom (Kyoto); 2015 May; 55(2):107-11. PubMed ID: 25174267
[TBL] [Abstract][Full Text] [Related]
11. A new case of pure partial 7q duplication.
Alfonsi M; Palka C; Morizio E; Gatta V; Franchi S; Guanciali Franchi P; Zori R; Calabrese G; Palka G; Chiarelli F
Cytogenet Genome Res; 2012; 136(1):1-5. PubMed ID: 22086126
[TBL] [Abstract][Full Text] [Related]
12. Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.
Giannikou K; Fryssira H; Oikonomakis V; Syrmou A; Kosma K; Tzetis M; Kitsiou-Tzeli S; Kanavakis E
Gene; 2012 Sep; 506(2):360-8. PubMed ID: 22766398
[TBL] [Abstract][Full Text] [Related]
13. De novo 10q22 interstitial deletion.
Cook L; Weaver DD; Hartsfield JK; Vance GH
J Med Genet; 1999 Jan; 36(1):71-2. PubMed ID: 9950372
[TBL] [Abstract][Full Text] [Related]
14. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).
Sarasua SM; Dwivedi A; Boccuto L; Rollins JD; Chen CF; Rogers RC; Phelan K; DuPont BR; Collins JS
J Med Genet; 2011 Nov; 48(11):761-6. PubMed ID: 21984749
[TBL] [Abstract][Full Text] [Related]
15. Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.
Ballarati L; Cereda A; Caselli R; Selicorni A; Recalcati MP; Maitz S; Finelli P; Larizza L; Giardino D
Eur J Med Genet; 2011; 54(1):55-9. PubMed ID: 20969981
[TBL] [Abstract][Full Text] [Related]
16. Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy.
Sills ES; Burns MJ; Parker LD; Carroll LP; Kephart LL; Dyer CS; Papenhausen PR; Davis JG
Orphanet J Rare Dis; 2007 Feb; 2():9. PubMed ID: 17295911
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings.
Chen CP; Lin SP; Chern SR; Tsai FJ; Wu PC; Lee CC; Chen YT; Chen WL; Wang W
Eur J Med Genet; 2010; 53(5):329-32. PubMed ID: 20541044
[TBL] [Abstract][Full Text] [Related]
19. Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay.
Davidsson J; Collin A; Björkhem G; Soller M
BMC Med Genet; 2008 Jan; 9():2. PubMed ID: 18194513
[TBL] [Abstract][Full Text] [Related]
20. Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.
Lespinasse J; Gimelli S; Béna F; Antonarakis SE; Ansermet F; Paoloni-Giacobino A
Eur J Med Genet; 2009; 52(1):49-52. PubMed ID: 18992376
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
