148 related articles for article (PubMed ID: 36156508)
1. Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome.
Wang J; Zhao T; Tan Z; Gong X; Ahemaiti Y; Wei L; Hu S
J Genet; 2022; 101():. PubMed ID: 36156508
[TBL] [Abstract][Full Text] [Related]
2. 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
Conrad S; Demurger F; Moradkhani K; Pichon O; Le Caignec C; Pascal C; Thomas C; Bayart S; Perlat A; Dubourg C; Jaillard S; Nizon M
Am J Med Genet A; 2019 Jun; 179(6):993-1000. PubMed ID: 30888095
[TBL] [Abstract][Full Text] [Related]
3. Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.
So J; Stockley T; Stavropoulos DJ
Am J Med Genet A; 2014 Feb; 164A(2):511-5. PubMed ID: 24311471
[TBL] [Abstract][Full Text] [Related]
4. Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?
Fernández Hernández L; Alcántara Ortigoza MA; Ramos Angeles SE; González-Del Angel A
Cytogenet Genome Res; 2021; 161(12):556-563. PubMed ID: 35021179
[TBL] [Abstract][Full Text] [Related]
5. Proximal deletion of the long arm of chromosome 1: [del(1)(q23-q25)].
Lo LJ; Noordhoff MS; Huang CS; Chen KT; Chen YR
Cleft Palate Craniofac J; 1993 Nov; 30(6):586-9. PubMed ID: 8280739
[TBL] [Abstract][Full Text] [Related]
6. Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps.
Jamsheer A; Smyk M; Wierzba J; Kołowska J; Woźniak A; Skołozdrzy J; Fischer M; Latos-Bieleńska A
J Appl Genet; 2008; 49(4):397-405. PubMed ID: 19029687
[TBL] [Abstract][Full Text] [Related]
7. Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.
Guerin A; Stavropoulos DJ; Diab Y; Chénier S; Christensen H; Kahr WH; Babul-Hirji R; Chitayat D
Am J Med Genet A; 2012 Oct; 158A(10):2551-6. PubMed ID: 22965935
[TBL] [Abstract][Full Text] [Related]
8. Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16).
Basinko A; Audebert-Bellanger S; Douet-Guilbert N; Le Franc J; Parent P; Quemener S; La Selve P; Bovo C; Morel F; Le Bris MJ; De Braekeleer M
Am J Med Genet A; 2011 Sep; 155A(9):2281-7. PubMed ID: 21834034
[TBL] [Abstract][Full Text] [Related]
9. Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients.
Obregon MG; Mingarelli R; Digilio MC; Zelante L; Giannotti A; Sabatino G; Dallapiccola B
Ann Genet; 1992; 35(4):208-12. PubMed ID: 1296516
[TBL] [Abstract][Full Text] [Related]
10. Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.
Tyson C; Qiao Y; Harvard C; Liu X; Bernier FP; McGillivray B; Farrell SA; Arbour L; Chudley AE; Clarke L; Gibson W; Dyack S; McLeod R; Costa T; Vanallen MI; Yong SL; Graham GE; Macleod P; Patel MS; Hurlburt J; Holden JJ; Lewis SM; Rajcan-Separovic E
Mol Cytogenet; 2008 Nov; 1():23. PubMed ID: 19000322
[TBL] [Abstract][Full Text] [Related]
11. Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.
Ji T; Wu Y; Wang H; Wang J; Jiang Y
J Hum Genet; 2010 Aug; 55(8):486-9. PubMed ID: 20520618
[TBL] [Abstract][Full Text] [Related]
12. 11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.
Maruani A; Huguet G; Beggiato A; ElMaleh M; Toro R; Leblond CS; Mathieu A; Amsellem F; Lemière N; Verloes A; Leboyer M; Gillberg C; Bourgeron T; Delorme R
Am J Med Genet A; 2015 Dec; 167A(12):3019-30. PubMed ID: 26334118
[TBL] [Abstract][Full Text] [Related]
13. The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.
Dalm VA; Driessen GJ; Barendregt BH; van Hagen PM; van der Burg M
J Clin Immunol; 2015 Nov; 35(8):761-8. PubMed ID: 26566921
[TBL] [Abstract][Full Text] [Related]
14. Interstitial 11q24 deletion: a new case and review of the literature.
Tassano E; Janis S; Canepa A; Zanotto E; Torello C; Gimelli G; Cuoco C
J Appl Genet; 2016 Aug; 57(3):357-62. PubMed ID: 27020790
[TBL] [Abstract][Full Text] [Related]
15. Monosomy and trisomy of 15q24-qter with cleft lip and palate.
Abe A; Hatano Y; Kurita K; Nakano M; Shimizu M; Yokoi T; Sugiyama N
Int J Oral Maxillofac Surg; 2008 May; 37(5):487-90. PubMed ID: 18262763
[TBL] [Abstract][Full Text] [Related]
16. Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.
Favier R; Akshoomoff N; Mattson S; Grossfeld P
Am J Med Genet C Semin Med Genet; 2015 Sep; 169(3):239-50. PubMed ID: 26285164
[TBL] [Abstract][Full Text] [Related]
17. Jacobsen syndrome without thrombocytopenia: a case report and review of the literature.
Nalbantoğlu B; Donma MM; Nişli K; Paketçi C; Karasu E; Ozdilek B; Mintaş NE
Turk J Pediatr; 2013; 55(2):203-6. PubMed ID: 24192682
[TBL] [Abstract][Full Text] [Related]
18. A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype.
Evers C; Janssen JW; Jauch A; Bonin M; Moog U
Am J Med Genet A; 2012 Mar; 158A(3):680-4. PubMed ID: 22302716
[No Abstract] [Full Text] [Related]
19. Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature.
Ysunza A; Shaheen K; Aughton DJ; Micale MA; Merson R; Rutkowski K
Int J Pediatr Otorhinolaryngol; 2013 Sep; 77(9):1601-5. PubMed ID: 23815883
[TBL] [Abstract][Full Text] [Related]
20. A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
Courtens W; Wauters J; Wojciechowski M; Reyniers E; Scheers S; van Luijk R; Rooms L; Kooy F; Wuyts W
Clin Dysmorphol; 2007 Oct; 16(4):231-9. PubMed ID: 17786114
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]