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Items: 1 to 20 of 27

1.

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality.

Heilstedt HA, Ballif BC, Howard LA, Kashork CD, Shaffer LG.

Clin Genet. 2003 Oct;64(4):310-6.

PMID:
12974736
2.

Del 1p36 syndrome: a newly emerging clinical entity.

Battaglia A.

Brain Dev. 2005 Aug;27(5):358-61. Review.

PMID:
16023552
3.

Monosomy 1p36.31-33-->pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis.

Blennow E, Bui TH, Wallin A, Kogner P.

Am J Med Genet. 1996 Oct 2;65(1):60-7. Review.

PMID:
8914743
4.

Monosomy 1p36.

Slavotinek A, Shaffer LG, Shapira SK.

J Med Genet. 1999 Sep;36(9):657-63. Review.

5.

Monosomy 1p36 deletion syndrome.

Gajecka M, Mackay KL, Shaffer LG.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):346-56. Review.

PMID:
17918734
6.

Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs.

Giardino D, Corti C, Ballarati L, Finelli P, Valtorta C, Botta G, Giudici M, Grosso E, Larizza L.

Prenat Diagn. 2006 Jun;26(6):565-70. Review.

PMID:
16683274
7.

Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature.

Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M.

Am J Med Genet A. 2004 Aug 1;128A(4):352-63. Review.

PMID:
15264280
9.

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
10.

Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature.

Campeau PM, Ah Mew N, Cartier L, Mackay KL, Shaffer LG, Der Kaloustian VM, Thomas MA.

Am J Med Genet A. 2008 Dec 1;146A(23):3062-9. doi: 10.1002/ajmg.a.32563. Review.

PMID:
19006213
11.

Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

Chaabouni M, Martinovic J, Sanlaville D, Attié-Bittach T, Caillat S, Turleau C, Vekemans M, Morichon N.

Eur J Med Genet. 2006 Nov-Dec;49(6):487-93. Epub 2006 Apr 25. Review.

PMID:
17142120
13.

Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.

Le Caignec C, De Mas P, Vincent MC, Bocéno M, Bourrouillou G, Rival JM, David A.

Am J Med Genet A. 2005 Jan 15;132A(2):175-80. Review.

PMID:
15578619
14.

Interstitial deletion 11q. Case report and review of the literature.

De Pater JM, Ippel PF, Bijlsma JB, Van Nieuwenhuizen O.

Genet Couns. 1997;8(4):335-9. Review.

PMID:
9457504
15.

Role of cytogenetics and molecular cytogenetics in the diagnosis of genetic imbalances.

Dave BJ, Sanger WG.

Semin Pediatr Neurol. 2007 Mar;14(1):2-6. Review.

PMID:
17331878
16.

An interstitial deletion of chromosome 7 at band q21: a case report and review.

Courtens W, Vermeulen S, Wuyts W, Messiaen L, Wauters J, Nuytinck L, Peeters N, Storm K, Speleman F, Nöthen MM.

Am J Med Genet A. 2005 Apr 1;134A(1):12-23. Review.

PMID:
15732063
17.

Interchromosomal insertions. Identification of five cases and a review.

Van Hemel JO, Eussen HJ.

Hum Genet. 2000 Nov;107(5):415-32. Review.

PMID:
11140939
18.

Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature.

Faivre L, Morichon-Delvallez N, Viot G, Martinovic J, Pinson MP, Aubry JP, Raclin V, Edery P, Dumez Y, Munnich A, Vekemans M.

Prenat Diagn. 1999 Jan;19(1):49-53. Review.

PMID:
10073907
19.

An update on chromosome deletion and microdeletion syndromes.

Shapira SK.

Curr Opin Pediatr. 1998 Dec;10(6):622-7. Review.

PMID:
9848023
20.

1p36 Deletion Syndrome.

Battaglia A.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Feb 1 [updated 2013 Jun 6].

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