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Items: 1 to 20 of 30

1.

Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation.

Yamada K, Fukushi D, Ono T, Kondo Y, Kimura R, Nomura N, Kosaki KJ, Yamada Y, Mizuno S, Wakamatsu N.

Am J Med Genet A. 2010 Dec;152A(12):3057-67. doi: 10.1002/ajmg.a.33174.

PMID:
21086493
2.

A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient.

Quadrelli R, Strehle EM, Vaglio A, Larrandaburu M, Mechoso B, Quadrelli A, Fan YS, Huang T.

Genet Test. 2007 Spring;11(1):4-10.

PMID:
17394389
3.

Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma.

Moog U, Engelen JJ, van Schrojenstein Lantman-de Valk HM, Driessen SD, Fryns JP.

Clin Dysmorphol. 2003 Jan;12(1):35-9.

PMID:
12514363
4.

Unexpected retention and concomitant loss of subtelomeric regions in balanced chromosome anomalies by FISH.

Pettenati MJ, Jackle B, Bobby P, Stewart W, Von Kap-Herr C, Mowrey P, Rao PN, May KM.

Am J Med Genet. 2002 Jul 22;111(1):48-53.

PMID:
12124733
5.

Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies.

Estop AM, Cieply K, Munne S, Surti U, Wakim A, Feingold E.

Hum Genet. 2000 May;106(5):517-24. Erratum in: Hum Genet 2000 Jul;107(1):95.

PMID:
10914681
6.

4q33-qter deletion and absorptive hypercalciuria: report of two unrelated girls.

Imamura K, Tonoki H, Wakui K, Fukushima Y, Sasaki S, Yausda K, Takekoshi Y, Tochimaru H.

Am J Med Genet. 1998 Jun 16;78(1):52-4.

PMID:
9637423
7.

Deletion (4)(q33 --> qter): a case report and review of the literature.

Borochowitz Z, Shalev SA, Yehudai I, Bar-el H, Dar H, Tirosh E.

J Child Neurol. 1997 Aug;12(5):335-7. Review. No abstract available.

PMID:
9378903
8.

Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study.

Hsu LY, Yu MT, Richkind KE, Van Dyke DL, Crandall BF, Saxe DF, Khodr GS, Mennuti M, Stetten G, Miller WA, Priest JH.

Prenat Diagn. 1996 Jan;16(1):1-28.

PMID:
8821848
9.

MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/14q duplication.

Fryns JP, Borghgraef M, Lemmens F, van den Berghe H.

Clin Genet. 1993 Sep;44(3):146-8.

PMID:
8275573
11.

Parental chromosome translocations and fetal loss.

Tsenghi C, Metaxotou C, Kalpini-Mavrou A, Strataki-Benetou M, Matsaniotis N.

Obstet Gynecol. 1981 Oct;58(4):456-8.

PMID:
7279340
12.

Deletions of different segments of the long arm of chromosome 4.

Mitchell JA, Packman S, Loughman WD, Fineman RM, Zackai E, Patil SR, Emanual B, Bartley JA, Hanson JW.

Am J Med Genet. 1981;8(1):73-89.

PMID:
7246608
13.

Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33.

Tomkins DJ, Hunter AG, Uchida IA, Roberts MH.

Clin Genet. 1982 Dec;22(6):348-55.

PMID:
7160106
14.

Terminal deletion(4)(q33) in a male infant.

Stamberg J, Jabs EW, Elias E.

Clin Genet. 1982 Feb;21(2):125-9. No abstract available.

PMID:
7083613
16.

Deletion of chromosome 4q33 leads to qter. Is it different from 4q31 leads to qter deletion syndrome?

Tuchman M, Ebrahimi J, Gorlin RJ.

Am J Med Genet. 1983 Feb;14(2):391-3. No abstract available.

PMID:
6837634
17.

Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.

Turleau C, de Grouchy J, Chavin-Colin F, Martelli H, Voyer M, Charlas R.

Hum Genet. 1984;67(2):219-21.

PMID:
6745943
18.
19.

An unbalanced 4q-21q translocation identified by the R but not by the G and Q chromosome banding techniques.

Dutrillaux B, Jonasson J, Laurèn K, Lejeune J, Lindsten J, Petersen GB, Saldaña-Garcia P.

Ann Genet. 1973 Mar;16(1):11-6. No abstract available.

PMID:
4124663
20.

Chromosome studies of 500 couples with two or more abortions.

Sachs ES, Jahoda MG, Van Hemel JO, Hoogeboom AJ, Sandkuyl LA.

Obstet Gynecol. 1985 Mar;65(3):375-8.

PMID:
3974963

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