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Items: 14

1.

22q13 Microduplication in two patients with common clinical manifestations: a recognizable syndrome?

Okamoto N, Kubota T, Nakamura Y, Murakami R, Nishikubo T, Tanaka I, Takahashi Y, Hayashi S, Imoto I, Inazawa J, Hosokai N, Kohsaka S, Uchino S.

Am J Med Genet A. 2007 Dec 1;143A(23):2804-9.

PMID:
17975801
2.

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome.

Tabolacci E, Zollino M, Lecce R, Sangiorgi E, Gurrieri F, Leuzzi V, Opitz JM, Neri G.

Clin Dysmorphol. 2005 Jul;14(3):127-32.

PMID:
15930901
3.

Further delineation of the 22q13 deletion syndrome.

Lindquist SG, Kirchhoff M, Lundsteen C, Pedersen W, Erichsen G, Kristensen K, Lillquist K, Smedegaard HH, Skov L, Tommerup N, Brøndum-Nielsen K.

Clin Dysmorphol. 2005 Apr;14(2):55-60.

PMID:
15770125
4.

Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2.

Tsilchorozidou T, Menko FH, Lalloo F, Kidd A, De Silva R, Thomas H, Smith P, Malcolmson A, Dore J, Madan K, Brown A, Yovos JG, Tsaligopoulos M, Vogiatzis N, Baser ME, Wallace AJ, Evans DG.

J Med Genet. 2004 Jul;41(7):529-34. Review. No abstract available.

5.

An investigation into sub-telomeric deletions of chromosome 22 and pervasive developmental disorders.

Nair-Miranda K, Murch A, Petterson B, Hill W, Nikolova-Hill A, Bradley L, Jackson S, Hallmayer J.

Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15;125B(1):99-104.

PMID:
14755453
6.

22q13 deletion syndrome.

Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP.

Am J Med Genet. 2001 Jun 15;101(2):91-9.

PMID:
11391650
7.

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.

Prasad C, Prasad AN, Chodirker BN, Lee C, Dawson AK, Jocelyn LJ, Chudley AE.

Clin Genet. 2000 Feb;57(2):103-9.

PMID:
10735630
8.

Prenatal diagnosis of mosaicism for a del(22)(q13).

Riegel M, Baumer A, Wisser J, Acherman J, Schinzel A.

Prenat Diagn. 2000 Jan;20(1):76-9.

PMID:
10701858
9.

Deletion mapping by FISH with BACs in patients with partial monosomy 22q13.

Schröder K, Schuffenhauer S, Seidel H, Bartsch O, Blin N, Hinkel GK, Schmitt H.

Hum Genet. 1998 May;102(5):557-61.

PMID:
9654204
10.

Segregation analysis of rare autosomal folate sensitive fragile sites.

Samadder P, Evans JA, Chudley AE.

Am J Med Genet. 1993 Apr 15;46(2):165-71.

PMID:
8484403
11.

Trisomy 22 syndrome in a 26-year-old female--A follow-up examination.

Annerén G, Gustavson KH.

Hereditas. 1981;94(1):67-71. No abstract available.

12.

Fragile 22q13 segregating in a family.

Webb T, Thake A.

Clin Genet. 1984 Aug;26(2):125-8.

PMID:
6467665
13.

Trisomy 22: a clinically identifiable syndrome.

Alfi OS, Sanger RG, Donnell GM.

Birth Defects Orig Artic Ser. 1975;11(5):241-5. No abstract available.

PMID:
1218221
14.

[Partial trisonomy 22].

Taillemite JL, Baheux-Morlier G, Van den Akker J, Portnoi MF, Leporrier N, Hazael-Massieux P, Roux C.

Ann Genet. 1977 Dec;20(4):291-3. French. No abstract available.

PMID:
305760

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