158 related articles for article (PubMed ID: 17603806)
1. A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.
Hill AD; Chang BS; Hill RS; Garraway LA; Bodell A; Sellers WR; Walsh CA
Am J Med Genet A; 2007 Aug; 143A(15):1692-8. PubMed ID: 17603806
[TBL] [Abstract][Full Text] [Related]
2. Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination.
Shimojima K; Okamoto N; Suzuki Y; Saito M; Mori M; Yamagata T; Momoi MY; Hattori H; Okano Y; Hisata K; Okumura A; Yamamoto T
J Hum Genet; 2012 Sep; 57(9):593-600. PubMed ID: 22718018
[TBL] [Abstract][Full Text] [Related]
3. A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion.
Lloveras E; Canellas A; Barranco L; Alves C; Vila-Real M; Ventura V; Fernández D; Mendez B; Piqué M; Reis-Lima M; de la Iglesia C; Palau N; Costa M; Yeste D; Auge M; Perez C
Cytogenet Genome Res; 2019; 159(3):126-129. PubMed ID: 31830750
[TBL] [Abstract][Full Text] [Related]
4. De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.
Perrone MD; Rocca MS; Bruno I; Faletra F; Pecile V; Gasparini P
Eur J Med Genet; 2012 Feb; 55(2):117-9. PubMed ID: 22186213
[TBL] [Abstract][Full Text] [Related]
5. Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report.
Westphal DS; Andres S; Beitzel KI; Makowski C; Meitinger T; Hoefele J
Gene; 2017 Jun; 616():41-44. PubMed ID: 28336463
[TBL] [Abstract][Full Text] [Related]
6. Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
Caliebe A; Kroes HY; van der Smagt JJ; Martin-Subero JI; Tönnies H; van 't Slot R; Nievelstein RA; Muhle H; Stephani U; Alfke K; Stefanova I; Hellenbroich Y; Gillessen-Kaesbach G; Hochstenbach R; Siebert R; Poot M
Eur J Med Genet; 2010; 53(4):179-85. PubMed ID: 20382278
[TBL] [Abstract][Full Text] [Related]
7. Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
Perlman SJ; Kulkarni S; Manwaring L; Shinawi M
Am J Med Genet A; 2013 Apr; 161A(4):711-6. PubMed ID: 23494996
[TBL] [Abstract][Full Text] [Related]
8. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
Boland E; Clayton-Smith J; Woo VG; McKee S; Manson FD; Medne L; Zackai E; Swanson EA; Fitzpatrick D; Millen KJ; Sherr EH; Dobyns WB; Black GC
Am J Hum Genet; 2007 Aug; 81(2):292-303. PubMed ID: 17668379
[TBL] [Abstract][Full Text] [Related]
9. FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.
Gentile M; Di Carlo A; Volpe P; Pansini A; Nanna P; Valenzano MC; Buonadonna AL
Am J Med Genet A; 2003 Mar; 117A(3):251-4. PubMed ID: 12599188
[TBL] [Abstract][Full Text] [Related]
10. A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures.
Selmer KK; Bryne E; Rødningen OK; Fannemel M
Eur J Med Genet; 2012 Dec; 55(12):715-8. PubMed ID: 22975012
[TBL] [Abstract][Full Text] [Related]
11. A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis.
Andrieux J; Cuvellier JC; Duban-Bedu B; Joriot-Chekaf S; Dieux-Coeslier A; Manouvrier-Hanu S; Delobel B; Vallee L
Eur J Med Genet; 2008; 51(1):87-91. PubMed ID: 18053786
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.
Orellana C; Roselló M; Monfort S; Oltra S; Quiroga R; Ferrer I; Martínez F
Cytogenet Genome Res; 2009; 127(1):5-8. PubMed ID: 20110648
[TBL] [Abstract][Full Text] [Related]
14. Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
Nagamani SC; Erez A; Bay C; Pettigrew A; Lalani SR; Herman K; Graham BH; Nowaczyk MJ; Proud M; Craigen WJ; Hopkins B; Kozel B; Plunkett K; Hixson P; Stankiewicz P; Patel A; Cheung SW
Eur J Hum Genet; 2012 Feb; 20(2):176-9. PubMed ID: 21934713
[TBL] [Abstract][Full Text] [Related]
15. Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature.
Hemming IA; Forrest AR; Shipman P; Woodward KJ; Walsh P; Ravine DG; Heng JI
Am J Med Genet B Neuropsychiatr Genet; 2016 Apr; 171B(3):458-67. PubMed ID: 26853090
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Thierry G; Bénéteau C; Pichon O; Flori E; Isidor B; Popelard F; Delrue MA; Duboscq-Bidot L; Thuresson AC; van Bon BW; Cailley D; Rooryck C; Paubel A; Metay C; Dusser A; Pasquier L; Béri M; Bonnet C; Jaillard S; Dubourg C; Tou B; Quéré MP; Soussi-Zander C; Toutain A; Lacombe D; Arveiler B; de Vries BB; Jonveaux P; David A; Le Caignec C
Am J Med Genet A; 2012 Jul; 158A(7):1633-40. PubMed ID: 22678713
[TBL] [Abstract][Full Text] [Related]
18. Interstitial deletion of the long arm of chromosome 6.
Chery M; Formiga LF; Mujica P; André M; Stehelin D; Dozier C; Gilgenkrantz S
Ann Genet; 1989; 32(2):82-6. PubMed ID: 2757364
[TBL] [Abstract][Full Text] [Related]
19. A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.
Takagi M; Sasaki G; Mitsui T; Honda M; Tanaka Y; Hasegawa T
Eur J Med Genet; 2013 Sep; 56(9):526-8. PubMed ID: 23895774
[TBL] [Abstract][Full Text] [Related]
20. A new case of deletion 1q42 syndrome.
Tolkendorf E; Hinkel GK; Gabriel A
Clin Genet; 1989 Apr; 35(4):289-92. PubMed ID: 2653674
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
