Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 11

1.

The 11q terminal deletion disorder: a prospective study of 110 cases.

Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C.

Am J Med Genet A. 2004 Aug 15;129A(1):51-61.

PMID:
15266616
2.

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. Review.

PMID:
17786114
3.

Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a patient report and review.

Van Zutven LJ, van Bever Y, Van Nieuwland CC, Huijbregts GC, Van Opstal D, von Bergh AR, Corel LJ, Tibboel D, Wouters CH, Poddighe PJ.

Am J Med Genet A. 2009 Jul;149A(7):1468-75. doi: 10.1002/ajmg.a.32714. Review.

PMID:
19449434
4.

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID.

Am J Med Genet A. 2005 Apr 1;134A(1):3-11. Review.

PMID:
15704124
5.

11q- syndrome: three cases and a review of the literature.

Leegte B, Kerstjens-Frederikse WS, Deelstra K, Begeer JH, van Essen AJ.

Genet Couns. 1999;10(3):305-13. Review.

PMID:
10546104
6.

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. doi: 10.1002/ajmg.c.31448. Epub 2015 Aug 18. Review.

PMID:
26285164
7.

Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder.

Baker KL, Rees MI, Thompson PW, Howell RT, Cole TR, Houghes HE, Upadhyaya M, Ravine D.

J Med Genet. 2001 Jul;38(7):493-6. Review. No abstract available.

8.

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 Mar-Apr;55(2):203-6. Review.

PMID:
24192682
9.

Research in mental retardation: toward an etiologic approach.

Dykens EM, Hodapp RM.

J Child Psychol Psychiatry. 2001 Jan;42(1):49-71. Review.

PMID:
11205624
10.

Jacobsen syndrome.

Mattina T, Perrotta CS, Grossfeld P.

Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. Review.

11.

[Paris-Trousseau thrombocytopenia: a new entity and a model for understanding megakaryocytopoiesis].

Favier R.

Pathol Biol (Paris). 1997 Nov;45(9):693-6. Review. French. No abstract available.

PMID:
9538465

Supplemental Content

Support Center