Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 124

1.

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.

PMID:
11476069
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

Devriendt K, Matthijs G, Van Dael R, Gewillig M, Eyskens B, Hjalgrim H, Dolmer B, McGaughran J, Bröndum-Nielsen K, Marynen P, Fryns JP, Vermeesch JR.

Am J Hum Genet. 1999 Apr;64(4):1119-26.

PMID:
10090897
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus.

Tobias ES, Bryce G, Farmer G, Barton J, Colgan J, Morrison N, Cooke A, Tolmie JL.

J Med Genet. 2001 Jul;38(7):466-70. No abstract available.

PMID:
11474655
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours.

Perotti D, Testi MA, Mondini P, Pilotti S, Green ED, Pession A, Sozzi G, Pierotti MA, Fossati-Bellani F, Radice P.

Genes Chromosomes Cancer. 2001 May;31(1):42-7.

PMID:
11284034
[PubMed - indexed for MEDLINE]
5.

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.

Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF.

Epilepsia. 2003 Dec;44(12):1529-35.

PMID:
14636323
[PubMed - indexed for MEDLINE]
6.

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes.

Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, Bonaglia MC, Hennekam RC, Eng C, Dennis NR, Trembath RC.

J Med Genet. 2004 Jun;41(6):433-9. No abstract available.

PMID:
15173228
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Attention-deficit hyperactivity disorder and binge eating disorder in a patient with 2q21.1-q22.2 deletion.

Porfirio MC, Lo-Castro A, Giana G, Giovinazzo S, Purper Ouakil D, Galasso C, Curatolo P.

Psychiatr Genet. 2012 Aug;22(4):202-5. doi: 10.1097/YPG.0b013e3283539604.

PMID:
22517382
[PubMed - indexed for MEDLINE]
8.

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson EC, Holden JJ, Lewis ME, Rajcan-Separovic E.

Clin Genet. 2005 Apr;67(4):341-51.

PMID:
15733271
[PubMed - indexed for MEDLINE]
9.

Multicolour FISH fine mapping unravels an insertion as a complex chromosomal rearrangement involving six breakpoints and a 5.89 Mb large deletion.

Kraus J, Cohen M, Speicher MR.

J Med Genet. 2003 May;40(5):e60. No abstract available.

PMID:
12746414
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient.

Misceo D, Bjørgo K, Ormerod E, Ringen Ø, Rocchi M, van der Hagen CB, Frengen E.

Am J Med Genet A. 2008 Dec 15;146A(24):3230-3. doi: 10.1002/ajmg.a.32582. No abstract available.

PMID:
19012337
[PubMed - indexed for MEDLINE]
11.

1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child.

Cobb W, Anderson A, Turner C, Hoffman RD, Schonberg S, Levin SW.

Eur J Med Genet. 2010 Nov-Dec;53(6):415-8. doi: 10.1016/j.ejmg.2010.08.009. Epub 2010 Sep 9.

PMID:
20832509
[PubMed - indexed for MEDLINE]
12.

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

Van Buggenhout G, Melotte C, Dutta B, Froyen G, Van Hummelen P, Marynen P, Matthijs G, de Ravel T, Devriendt K, Fryns JP, Vermeesch JR.

J Med Genet. 2004 Sep;41(9):691-8. No abstract available.

PMID:
15342700
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

ADD/ADHD and hypermobile joints.

Harris MJ.

J Paediatr Child Health. 1998 Aug;34(4):400-1. No abstract available.

PMID:
9727190
[PubMed - indexed for MEDLINE]
14.

Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality.

Wenger SL, McPherson EW.

Clin Genet. 1997 Jul;52(1):61-2. Review.

PMID:
9272715
[PubMed - indexed for MEDLINE]
15.

Partial monosomy of distal 10q: three new cases and a review.

Waggoner DJ, Chow CK, Dowton SB, Watson MS.

Am J Med Genet. 1999 Sep 3;86(1):1-5. Review.

PMID:
10440820
[PubMed - indexed for MEDLINE]
16.

A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders.

Gratacòs M, Nadal M, Martín-Santos R, Pujana MA, Gago J, Peral B, Armengol L, Ponsa I, Miró R, Bulbena A, Estivill X.

Cell. 2001 Aug 10;106(3):367-79.

PMID:
11509185
[PubMed - indexed for MEDLINE]
Free Article
17.

Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region.

Butler MG, Bittel D, Talebizadeh Z.

J Med Genet. 2002 Mar;39(3):202-4. No abstract available.

PMID:
11897825
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q.

Bakker SC, van der Meulen EM, Buitelaar JK, Sandkuijl LA, Pauls DL, Monsuur AJ, van 't Slot R, Minderaa RB, Gunning WB, Pearson PL, Sinke RJ.

Am J Hum Genet. 2003 May;72(5):1251-60. Epub 2003 Apr 4.

PMID:
12679898
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

[Chromosome 22q11 deletion syndrome and its relevance for child and adolescent psychiatry. An overview of etiology, physical symptoms, aspects of child development and psychiatric disorders].

Briegel W, Cohen M.

Z Kinder Jugendpsychiatr Psychother. 2004 May;32(2):107-15. Review. German.

PMID:
15181786
[PubMed - indexed for MEDLINE]
20.

Isolated 6q terminal deletions: an emerging new syndrome.

Bertini V, De Vito G, Costa R, Simi P, Valetto A.

Am J Med Genet A. 2006 Jan 1;140(1):74-81.

PMID:
16329114
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk