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Items: 18

1.

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.

Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D.

J Med Genet. 2010 Jun;47(6):377-84. doi: 10.1136/jmg.2009.071902.

PMID:
20522426
2.

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
3.

Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation.

Grimbacher B, Dutra AS, Holland SM, Fischer RE, Pao M, Gallin JI, Puck JM.

Genet Med. 1999 Jul-Aug;1(5):213-8.

PMID:
11256675
4.

Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t (4;14)(q21;p12).

Grabowski M, Fauth C, Wirtz A, Speicher MR.

Am J Med Genet. 2000 Jun 5;92(4):264-8.

PMID:
10842293
5.

Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection.

van der Ven K, Montag M, Peschka B, Leygraaf J, Schwanitz G, Haidl G, Krebs D, van der Ven H.

Mol Hum Reprod. 1997 Aug;3(8):699-704.

6.

De novo interstitial tandem duplication of chromosome 4(q21-q28).

Navarro EG, Romero MC, Expósito IL, Velasco CM, Llamas JG, Ramón FJ, Jimenez RD.

Am J Med Genet. 1996 Mar 29;62(3):297-9. Review.

PMID:
8882791
7.

Intragenic reorganization of RB1 in a complex (4;13) rearrangement demonstrated by FISH.

Rosenberg C, Janson M, Nordeskjöld M, Børresen AL, Vianna-Morgante AM.

Cytogenet Cell Genet. 1994;65(4):268-71.

PMID:
8258302
8.
9.

Segregating reciprocal (4;21) (q21;q21) translocation with proposita trisomic for parts of 4q and 21.

De la Chapelle A, Koivisto M, Schröder J.

J Med Genet. 1973 Dec;10(4):384-9. No abstract available.

10.

Translocation mosaicism in a woman having multiple miscarriages.

Sciorra LJ, Lee ML, Cuccurullo G.

Am J Med Genet. 1985 Nov;22(3):615-7.

PMID:
4061494
11.

Interstitial deletion of chromosome 4q diagnosed prenatally.

Campbell JM, Williams J, Batcup G.

J Med Genet. 1986 Aug;23(4):366-8.

12.

Hydatidiform mole: parental chromosome aberrations in partial and complete moles.

Vejerslev LO, Fisher RA, Surti U, Wake N.

J Med Genet. 1987 Oct;24(10):613-5.

13.

A family with Huntington disease and reciprocal translocation 4;5.

Froster-Iskenius UG, Hayden MR, Wang HS, Kalousek DK, Horsman D, Pfeiffer RA, Schottky A, Schwinger E.

Am J Hum Genet. 1986 May;38(5):759-67.

14.

A case of Alagille's syndrome with translocation (4;14) (q21;q21).

Mujica P, Morali A, Vidailhet M, Pierson M, Gilgenkrantz S.

Ann Genet. 1989;32(2):117-9.

PMID:
2757361
17.

Interstitial deletion of 4(q21q25) in a liveborn male.

Rose NC, Schneider A, McDonald-McGinn DM, Caserta C, Emanuel BS, Zackai EH.

Am J Med Genet. 1991 Jul 1;40(1):77-9. Review.

PMID:
1887853
18.

De novo trisomy 4pter leads to q21.

Herva R, von Wendt L.

Hum Genet. 1978 Mar 17;41(2):225-30.

PMID:
640656
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