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2. Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems. Huynh MT; Gérard M; Ranguin K; Pichon O; Ghesh L; Alfallaj K; Joubert M; Bézieau S; Bénéteau C Neurogenetics; 2021 Jul; 22(3):195-206. PubMed ID: 34132911 [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. Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients. Chowdhury S; Bandholz AM; Parkash S; Dyack S; Rideout AL; Leppig KA; Thiese H; Wheeler PG; Tsang M; Ballif BC; Shaffer LG; Torchia BS; Ellison JW; Rosenfeld JA Am J Med Genet A; 2014 Jan; 164A(1):62-9. PubMed ID: 24243649 [TBL] [Abstract][Full Text] [Related]
5. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome. Rosenfeld JA; Lacassie Y; El-Khechen D; Escobar LF; Reggin J; Heuer C; Chen E; Jenkins LS; Collins AT; Zinner S; Babcock M; Morrow B; Schultz RA; Torchia BS; Ballif BC; Tsuchiya KD; Shaffer LG Eur J Med Genet; 2011; 54(1):42-9. PubMed ID: 20951845 [TBL] [Abstract][Full Text] [Related]
6. An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature. Õunap K; Pajusalu S; Zilina O; Reimand T; Žordania R Clin Case Rep; 2016 Aug; 4(8):824-30. PubMed ID: 27525095 [TBL] [Abstract][Full Text] [Related]
7. An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardation. Bouman A; Weiss M; Jansen S; Hankel M; Nieuwint A; Adriaanse B; van de Kamp J; Tan-Sindhunata G Clin Dysmorphol; 2015 Apr; 24(2):68-74. PubMed ID: 25714561 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Infantile presentation of 3q26.33-3q27.2 deletion syndrome. Robilliard R; Caylan M BMJ Case Rep; 2020 Nov; 13(11):. PubMed ID: 33257348 [TBL] [Abstract][Full Text] [Related]
10. 3q26.33-3q27.2 microdeletion: a new microdeletion syndrome? Mandrile G; Dubois A; Hoffman JD; Uliana V; Di Maria E; Malacarne M; Coviello D; Faravelli F; Zwolinski S; Hellens S; Wright M; Forzano F Eur J Med Genet; 2013 Apr; 56(4):216-21. PubMed ID: 23357683 [TBL] [Abstract][Full Text] [Related]
11. Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders. Palumbo O; Accadia M; Palumbo P; Leone MP; Scorrano A; Palladino T; Stallone R; Bonaglia MC; Carella M Eur J Med Genet; 2018 May; 61(5):248-252. PubMed ID: 29274487 [TBL] [Abstract][Full Text] [Related]
12. Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype. Ponzi E; Asaro A; Orteschi D; Genuardi M; Zollino M; Gurrieri F Eur J Med Genet; 2015 Aug; 58(8):400-5. PubMed ID: 26117585 [TBL] [Abstract][Full Text] [Related]
13. Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene? Ehret JK; Engels H; Cremer K; Becker J; Zimmermann JP; Wohlleber E; Grasshoff U; Rossier E; Bonin M; Mangold E; Bevot A; Schön S; Heilmann-Heimbach S; Dennert N; Mathieu-Dramard M; Lacaze E; Plessis G; de Broca A; Jedraszak G; Röthlisberger B; Miny P; Filges I; Dufke A; Andrieux J; Lee JA; Zink AM Mol Cytogenet; 2015; 8():72. PubMed ID: 26421060 [TBL] [Abstract][Full Text] [Related]
14. A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features. Xie B; Fan X; Lei Y; Chen R; Wang J; Fu C; Yi S; Luo J; Zhang S; Yang Q; Chen S; Shen Y Mol Cytogenet; 2016; 9():41. PubMed ID: 27247625 [TBL] [Abstract][Full Text] [Related]
15. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Ballif BC; Rosenfeld JA; Traylor R; Theisen A; Bader PI; Ladda RL; Sell SL; Steinraths M; Surti U; McGuire M; Williams S; Farrell SA; Filiano J; Schnur RE; Coffey LB; Tervo RC; Stroud T; Marble M; Netzloff M; Hanson K; Aylsworth AS; Bamforth JS; Babu D; Niyazov DM; Ravnan JB; Schultz RA; Lamb AN; Torchia BS; Bejjani BA; Shaffer LG Hum Genet; 2012 Jan; 131(1):145-56. PubMed ID: 21800092 [TBL] [Abstract][Full Text] [Related]
17. Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension. Nimmakayalu M; Major H; Sheffield V; Solomon DH; Smith RJ; Patil SR; Shchelochkov OA Am J Med Genet A; 2011 Feb; 155A(2):418-23. PubMed ID: 21271665 [TBL] [Abstract][Full Text] [Related]
18. Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability. Barøy T; Misceo D; Strømme P; Stray-Pedersen A; Holmgren A; Rødningen OK; Blomhoff A; Helle JR; Stormyr A; Tvedt B; Fannemel M; Frengen E Orphanet J Rare Dis; 2013 Jan; 8():3. PubMed ID: 23294540 [TBL] [Abstract][Full Text] [Related]
19. Five patients with novel overlapping interstitial deletions in 8q22.2q22.3. Kuechler A; Buysse K; Clayton-Smith J; Le Caignec C; David A; Engels H; Kohlhase J; Mari F; Mortier G; Renieri A; Wieczorek D Am J Med Genet A; 2011 Aug; 155A(8):1857-64. PubMed ID: 21739578 [TBL] [Abstract][Full Text] [Related]
20. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. Bruno DL; Anderlid BM; Lindstrand A; van Ravenswaaij-Arts C; Ganesamoorthy D; Lundin J; Martin CL; Douglas J; Nowak C; Adam MP; Kooy RF; Van der Aa N; Reyniers E; Vandeweyer G; Stolte-Dijkstra I; Dijkhuizen T; Yeung A; Delatycki M; Borgström B; Thelin L; Cardoso C; van Bon B; Pfundt R; de Vries BB; Wallin A; Amor DJ; James PA; Slater HR; Schoumans J J Med Genet; 2010 May; 47(5):299-311. PubMed ID: 20452996 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]