289 related articles for article (PubMed ID: 18757045)
1. Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases.
Tempesta S; Sollima D; Ghezzo S; Politi V; Sinigaglia B; Balducci F; Celso B; Restuccia A; Stefani M; Cernetti R; Marzocchi C; Ciccone R; Zuffardi O; Bovicelli L; Santarini L
Eur J Med Genet; 2008; 51(6):639-45. PubMed ID: 18757045
[TBL] [Abstract][Full Text] [Related]
2. Narrowing the deleted region associated with the 15q21 syndrome.
Pramparo T; Mattina T; Gimelli S; Liehr T; Zuffardi O
Eur J Med Genet; 2005; 48(3):346-52. PubMed ID: 16179230
[TBL] [Abstract][Full Text] [Related]
3. Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).
Lalani SR; Sahoo T; Sanders ME; Peters SU; Bejjani BA
BMC Med Genet; 2006 Feb; 7():8. PubMed ID: 16472378
[TBL] [Abstract][Full Text] [Related]
4. Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.
Béri-Deixheimer M; Gregoire MJ; Toutain A; Brochet K; Briault S; Schaff JL; Leheup B; Jonveaux P
Eur J Hum Genet; 2007 Apr; 15(4):446-52. PubMed ID: 17290276
[TBL] [Abstract][Full Text] [Related]
5. A case with de novo interstitial deletion of chromosome 7q21.1-q22.
Manguoğlu E; Berker-Karaüzüm S; Baumer A; Mihçi E; Taçoy S; Lüleci G; Schinzel A
Genet Couns; 2005; 16(2):155-9. PubMed ID: 16080295
[TBL] [Abstract][Full Text] [Related]
6. Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).
Rump P; Dijkhuizen T; Sikkema-Raddatz B; Lemmink HH; Vos YJ; Verheij JB; van Ravenswaaij CM
Clin Genet; 2008 Nov; 74(5):455-62. PubMed ID: 18651844
[TBL] [Abstract][Full Text] [Related]
7. Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
Kitsiou-Tzeli S; Sismani C; Ioannides M; Bashiardes S; Ketoni A; Touliatou V; Kolialexi A; Mavrou A; Kanavakis E; Patsalis PC
Eur J Med Genet; 2007; 50(1):73-8. PubMed ID: 17194633
[TBL] [Abstract][Full Text] [Related]
8. Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH.
Sukumar S; Wang S; Hoang K; Vanchiere CM; England K; Fick R; Pagon B; Reddy KS
Am J Med Genet; 1999 Nov; 87(1):17-22. PubMed ID: 10528241
[TBL] [Abstract][Full Text] [Related]
9. Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.
Ballarati L; Recalcati MP; Bedeschi MF; Lalatta F; Valtorta C; Bellini M; Finelli P; Larizza L; Giardino D
Eur J Med Genet; 2009; 52(4):218-23. PubMed ID: 19236961
[TBL] [Abstract][Full Text] [Related]
10. Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.
Doco-Fenzy M; Landais E; Andrieux J; Schneider A; Delemer B; Sulmont V; Melin JP; Ploton D; Thevenard J; Monboisse JC; Belouadah M; Lefebvre F; Durlach A; Goossens M; Albuisson J; Motte J; Gaillard D
Eur J Med Genet; 2008; 51(6):598-607. PubMed ID: 18822396
[TBL] [Abstract][Full Text] [Related]
11. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
Battaglia A; Hoyme HE; Dallapiccola B; Zackai E; Hudgins L; McDonald-McGinn D; Bahi-Buisson N; Romano C; Williams CA; Brailey LL; Zuberi SM; Carey JC
Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432
[TBL] [Abstract][Full Text] [Related]
12. A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.
Hoffer MJ; Hilhorst-Hofstee Y; Knijnenburg J; Hansson KB; Engelberts AC; Laan LA; Bakker E; Rosenberg C
Eur J Med Genet; 2007; 50(2):149-54. PubMed ID: 17223398
[TBL] [Abstract][Full Text] [Related]
13. Interstitial deletion 2p accompanied by marker chromosome formation of the deleted segment resulting in a stable acentric marker chromosome.
Petit P; Fryns JP
Genet Couns; 1997; 8(4):341-3. PubMed ID: 9457505
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Detection of a 46,XX,der(3)t(3;4)(p25;p16.1) by using chromosome microdissection.
Grammatico P; Roccella M; De Bernardo C; Roccella F; Grammatico B; Rinaldi R; Del Porto G
Genet Couns; 1998; 9(4):259-64. PubMed ID: 9894162
[TBL] [Abstract][Full Text] [Related]
16. Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.
Kitsiou-Tzeli S; Sismani C; Koumbaris G; Ioannides M; Kanavakis E; Kolialexi A; Mavrou A; Touliatou V; Patsalis PC
Eur J Med Genet; 2008; 51(1):61-7. PubMed ID: 17998173
[TBL] [Abstract][Full Text] [Related]
17. Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene?
Ishikiriyama S; Goto M
Am J Med Genet; 1993 Sep; 47(4):487-9. PubMed ID: 8256811
[TBL] [Abstract][Full Text] [Related]
18. Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
Klopocki E; Neumann LM; Tönnies H; Ropers HH; Mundlos S; Ullmann R
Eur J Hum Genet; 2006 Dec; 14(12):1274-9. PubMed ID: 16896345
[TBL] [Abstract][Full Text] [Related]
19. Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.
Le Caignec C; Swillen A; Van Asche E; Fryns JP; Vermeesch JR
Eur J Med Genet; 2005; 48(3):339-45. PubMed ID: 16179229
[TBL] [Abstract][Full Text] [Related]
20. De novo 18q deletion with mitral valve insufficiency.
Gunes S; Okten G; Kara N; Saglam Y; Tasdemir HA; Kayacik OE; Tural S
Genet Couns; 2008; 19(3):261-5. PubMed ID: 18990980
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]