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Items: 1 to 20 of 153

1.

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations.

Engels H, Bosse K, Ehrbrecht A, Zahn S, Hoischen A, Propping P, Bindl L, Reutter H.

Am J Med Genet. 2002 Aug 1;111(2):205-9. Review.

PMID:
12210352
2.
3.

Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.

Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.

Genet Couns. 2005;16(2):129-38.

PMID:
16080292
4.

Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly).

Lazalde B, Sánchez-Urbina R, Nuño-Arana I, Bitar WE, de Lourdes Ramírez-Dueñas M.

Am J Med Genet. 2000 Oct 23;94(5):421-7. Review.

PMID:
11050630
5.

Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome.

Rosser EM, Kaariainen H, Hurst JA, Baraitser M, Hall CM, Clayton P, Leonard JV.

Clin Dysmorphol. 1998 Apr;7(2):79-85. Review.

PMID:
9571276
6.

[Chromosome subtelomeric analysis by FISH in patients with mental retardation].

Li R, Zhao ZY, Pai S.

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2004 Jul;33(4):349-52. Chinese.

PMID:
15269989
7.
8.

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.

Horn D, Neitzel H, Tönnies H, Kalscheuer V, Kunze J, Hinkel GK, Bartsch O.

Am J Med Genet A. 2003 Mar 15;117A(3):236-44. Review.

PMID:
12599186
9.

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome.

Garcia-Cruz D, Sánchez-Corona J, Nazará Z, Garcia-Crúz MO, Figuera LE, Castañeda V, Cantú JM.

Am J Med Genet. 1997 Mar 17;69(2):138-51.

PMID:
9056550
10.

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

Czeschik JC, Voigt C, Goecke TO, Lüdecke HJ, Wagner N, Kuechler A, Wieczorek D.

Am J Med Genet A. 2013 Feb;161A(2):295-300. doi: 10.1002/ajmg.a.35735. Epub 2013 Jan 10.

PMID:
23307537
11.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH.

Eur J Med Genet. 2013 Dec;56(12):678-82. doi: 10.1016/j.ejmg.2013.09.009. Epub 2013 Oct 28.

12.

Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis.

Battaglia A, Novelli A, Ceccarini C, Carey JC.

Am J Med Genet A. 2006 Jan 15;140(2):144-50.

PMID:
16353244
13.

Clinical and cytogenetic manifestations of subtelomeric aberrations: Report of six cases.

Font-Montgomery E, Weaver DD, Walsh L, Christensen C, Thurston VC.

Birth Defects Res A Clin Mol Teratol. 2004 Jun;70(6):408-15.

PMID:
15211711
14.

Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.

Baker E, Hinton L, Callen DF, Altree M, Dobbie A, Eyre HJ, Sutherland GR, Thompson E, Thompson P, Woollatt E, Haan E.

Am J Med Genet. 2002 Feb 1;107(4):285-93.

PMID:
11840484
15.

Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects.

Rodríguez L, Martínez-Fernández ML, Mansilla E, Mendioroz J, Arteaga RM, Toral JF, Guardia NM, García A, Centeno F, Pantoja J, Jovani C, Martínez-Frías ML.

Clin Dysmorphol. 2008 Jan;17(1):5-12.

PMID:
18049073
16.

Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.

Bocian E, Hélias-Rodzewicz Z, Suchenek K, Obersztyn E, Kutkowska-Kaźmierczak A, Stankiewicz P, Kostyk E, Mazurczak T.

Med Sci Monit. 2004 Apr;10(4):CR143-51.

PMID:
15039644
17.

Subtelomeric chromosome aberrations: still a lot to learn.

Moog U, Arens YH, van Lent-Albrechts JC, Huijts PE, Smeets EE, Schrander-Stumpel CT, Engelen JJ.

Clin Genet. 2005 Nov;68(5):397-407. Erratum in: Clin Genet. 2006 Apr;69(4):370.

PMID:
16207207
18.

Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia.

Nevin NC, Mulholland HC, Thomas PS.

Am J Med Genet. 1996 Dec 2;66(1):33-8.

PMID:
8957508
19.

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.

Afifi HH, Abdel-Hamid MS, Eid MM, Mostafa IS, Abdel-Salam GM.

Pediatr Dermatol. 2016 Mar-Apr;33(2):e109-13. doi: 10.1111/pde.12821. Epub 2016 Feb 12.

PMID:
26871653
20.

Six cases of cryptic subtelomeric translocations in four families: the use of subtelomeric FISH probes as a diagnostic tool.

Paoloni-Giacobino A, Dahoun S, Briault S, Chalumeau A, Till M, Morraine C, Lespinasse J.

Genet Couns. 2006;17(1):15-28.

PMID:
16719273

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