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Items: 1 to 20 of 111

1.

Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.

Sakai Y, Souzaki R, Yamamoto H, Matsushita Y, Nagata H, Ishizaki Y, Torisu H, Oda Y, Taguchi T, Shaw CA, Hara T.

BMC Med Genomics. 2014 Apr 22;7:19. doi: 10.1186/1755-8794-7-19.

2.

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

Leroy C, Landais E, Briault S, David A, Tassy O, Gruchy N, Delobel B, Grégoire MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, Thauvin-Robinet C, Arpin S, Le Caignec C, Jonveaux P, Beri M, Leporrier N, Motte J, Fiquet C, Brichet O, Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N, Gaillard D, Doco-Fenzy M.

Eur J Hum Genet. 2013 Jun;21(6):602-12. doi: 10.1038/ejhg.2012.230. Epub 2012 Oct 17.

3.

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.

Villavicencio-Lorini P, Klopocki E, Trimborn M, Koll R, Mundlos S, Horn D.

Eur J Hum Genet. 2013 Jul;21(7):743-8. doi: 10.1038/ejhg.2012.240. Epub 2012 Nov 28.

4.

Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).

Shim SH, Shim JS, Min K, Lee HS, Park JE, Park SH, Hwang E, Kim M.

Gene. 2014 Jan 15;534(1):100-6. doi: 10.1016/j.gene.2013.09.093. Epub 2013 Oct 2.

PMID:
24095776
5.

[One case of 2q37 deletion syndrome: clinical and genetic diagnosis].

Geng Q, Xie JS, Wu WQ, Luo FW, Chen WB.

Zhonghua Er Ke Za Zhi. 2013 Dec;51(12):934-7. Chinese.

PMID:
24495766
6.

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.

Cuscó I, del Campo M, Vilardell M, González E, Gener B, Galán E, Toledo L, Pérez-Jurado LA.

BMC Med Genet. 2008 Apr 11;9:27. doi: 10.1186/1471-2350-9-27.

7.

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.

Spielmann M, Marx S, Barbi G, Flöttmann R, Kehrer-Sawatzki H, König R, Horn D, Mundlos S, Nader S, Borck G.

Am J Med Genet A. 2016 May;170A(5):1202-7. doi: 10.1002/ajmg.a.37560. Epub 2016 Jan 29.

PMID:
26822876
8.

2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3.

Mehraein Y, Pfob M, Steinlein O, Aichinger E, Eggert M, Bubendorff V, Mannhart A, Müller S.

Cytogenet Genome Res. 2015;146(1):33-8. doi: 10.1159/000431389. Epub 2015 Jun 19.

PMID:
26112830
9.

Cytogenetics of a pediatric unclassified sex cord-stromal tumor of the testis: a case report.

Yang DT, Lowichik A, Chen J, Snow BW, Ulbright TM, Chen Z.

Cancer Genet Cytogenet. 2005 Jan 1;156(1):80-2.

PMID:
15588862
10.

The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.

Jean-Marçais N, Decamp M, Gérard M, Ribault V, Andrieux J, Kottler ML, Plessis G.

Am J Med Genet A. 2015 Jan;167A(1):185-9. doi: 10.1002/ajmg.a.36428. Epub 2014 Nov 17.

PMID:
25402011
11.

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.

Cho EK, Kim J, Yang A, Cho SY, Jin DK.

Ann Pediatr Endocrinol Metab. 2017 Jun;22(2):129-132. doi: 10.6065/apem.2017.22.2.129. Epub 2017 Jun 28.

12.

FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome.

Felder B, Radlwimmer B, Benner A, Mincheva A, Tödt G, Beyer KS, Schuster C, Bölte S, Schmötzer G, Klauck SM, Poustka F, Lichter P, Poustka A.

Am J Med Genet A. 2009 May;149A(5):952-9. doi: 10.1002/ajmg.a.32779.

PMID:
19365831
13.

2q37 Microdeletion Syndrome.

Doherty ES, Lacbawan FL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2007 May 3 [updated 2013 Jan 31].

14.

[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases].

Szczałuba K, Obersztyn E, Ziemkiewicz K, Jamsheer A, Bocian E, Mazurczak T.

Med Wieku Rozwoj. 2007 Jan-Mar;11(1):57-64. Polish.

PMID:
17965466
15.

Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia.

Ogura K, Takeshita K, Arakawa C, Shimojima K, Yamamoto T.

Am J Med Genet B Neuropsychiatr Genet. 2014 Dec;165B(8):684-90. doi: 10.1002/ajmg.b.32274. Epub 2014 Oct 20.

PMID:
25329715
16.

Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.

Lukusa T, Vermeesch JR, Holvoet M, Fryns JP, Devriendt K.

Genet Couns. 2004;15(3):293-301.

PMID:
15517821
17.

Loss of the Y-chromosome in the primary metastasis of a male sex cord stromal tumor: pathogenetic implications.

de Graaff WE, van Echten J, van der Veen AY, Sleijfer DT, Timmer A, Schraffordt Koops H, de Jong B.

Cancer Genet Cytogenet. 1999 Jul 1;112(1):21-5.

PMID:
10432930
18.

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.

Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE.

Am J Med Genet A. 2006 Jun 15;140(12):1267-73.

PMID:
16691576
19.

Holoprosencephaly associated with an apparent isolated 2q37.1-->2q37.3 deletion.

Lehman NL, Zaleski DH, Sanger WG, Adickes ED.

Am J Med Genet. 2001 May 1;100(3):179-81.

PMID:
11343300
20.

Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.

Lennon PA, Cooper ML, Curtis MA, Lim C, Ou Z, Patel A, Cheung SW, Bacino CA.

Am J Med Genet A. 2006 Jun 1;140(11):1156-63.

PMID:
16688748

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