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Items: 1 to 20 of 127

1.

Another patient with 12q13 microduplication.

Bertoli M, Alesi V, Gullotta F, Zampatti S, Abate MR, Palmieri C, Novelli A, Frontali M, Nardone AM.

Am J Med Genet A. 2013 Aug;161A(8):2004-8. doi: 10.1002/ajmg.a.35991. Epub 2013 Jul 3.

PMID:
23824684
2.

Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1.

Dallapiccola B, Bernardini L, Novelli A, Mingarelli R.

Am J Med Genet A. 2009 Mar;149A(3):546-8. doi: 10.1002/ajmg.a.32695. No abstract available.

PMID:
19215045
3.

Interstitial microduplication 12q13.2-q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf-Hirschhorn syndrome.

Wilson BT, Hellens SW, Breese GJ, Zwolinski SA, Wright MJ.

Clin Dysmorphol. 2012 Oct;21(4):196-9. doi: 10.1097/MCD.0b013e328356d409. No abstract available.

PMID:
22772582
4.

Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

Hannes F, Drozniewska M, Vermeesch JR, Haus O.

Eur J Med Genet. 2010 May-Jun;53(3):136-40. doi: 10.1016/j.ejmg.2010.02.004. Epub 2010 Mar 1.

PMID:
20197130
5.

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.

Shimizu K, Wakui K, Kosho T, Okamoto N, Mizuno S, Itomi K, Hattori S, Nishio K, Samura O, Kobayashi Y, Kako Y, Arai T, Tsutomu OI, Kawame H, Narumi Y, Ohashi H, Fukushima Y.

Am J Med Genet A. 2014 Mar;164A(3):597-609. doi: 10.1002/ajmg.a.36308. Epub 2013 Dec 19.

PMID:
24357569
6.

Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH).

Saberi A, Shariati G, Hamid M, Galehdari H, Abdorasouli N.

Arch Iran Med. 2014 Sep;17(9):642-4. doi: 0141709/AIM.0013.

7.

Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.

Roselló M, Monfort S, Orellana C, Ferrer-Bolufer I, Quiroga R, Oltra S, Martínez F.

Cytogenet Genome Res. 2009;125(2):103-8. doi: 10.1159/000227833. Epub 2009 Aug 31.

PMID:
19729912
8.

Clinical features in adult patient with Wolf-Hirschhorn syndrome.

Martínez-Quintana E, Rodríguez-González F.

Morphologie. 2014 Jun;98(321):86-9. doi: 10.1016/j.morpho.2014.02.002. Epub 2014 Mar 20.

PMID:
24656633
9.

Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

Engbers H, van der Smagt JJ, van 't Slot R, Vermeesch JR, Hochstenbach R, Poot M.

Eur J Hum Genet. 2009 Jan;17(1):129-32. doi: 10.1038/ejhg.2008.168. Epub 2008 Oct 1.

10.

Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter).

Mikhail FM, Sathienkijkanchai A, Robin NH, Prucka S, Biggerstaff JS, Komorowski J, Andersson R, Bruder CE, Piotrowski A, Diaz de Ståhl T, Dumanski JP, Carroll AJ.

Am J Med Genet A. 2007 Aug 1;143A(15):1760-6.

PMID:
17603794
11.
13.

109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.

Okamoto N, Ohmachi K, Shimada S, Shimojima K, Yamamoto T.

Am J Med Genet A. 2013 Jun;161A(6):1465-9. doi: 10.1002/ajmg.a.35910. Epub 2013 May 1.

PMID:
23637096
14.

Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome.

Coppola A, Chinthapalli K, Hammond P, Sander JW, Sisodiya SM.

Gene. 2013 Jan 10;512(2):532-5. doi: 10.1016/j.gene.2012.09.108. Epub 2012 Oct 11.

PMID:
23064045
15.

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

Terrone G, Cappuccio G, Genesio R, Esposito A, Fiorentino V, Riccitelli M, Nitsch L, Brunetti-Pierri N, Del Giudice E.

Am J Med Genet A. 2014 Jan;164A(1):190-3. doi: 10.1002/ajmg.a.36200. Epub 2013 Nov 15.

PMID:
24243641
16.

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).

Maas NM, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid BM, Schoumans J, Hordijk R, Devriendt K, Fryns JP, Vermeesch JR.

J Med Genet. 2008 Feb;45(2):71-80. Epub 2007 Sep 14.

PMID:
17873117
17.

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.

South ST, Hannes F, Fisch GS, Vermeesch JR, Zollino M.

Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):270-4. doi: 10.1002/ajmg.c.30188.

PMID:
18932125
18.

Mild Wolf-Hirschhorn phenotype in a girl with unbalanced t(4p;12p) translocation without seizures.

Galasso C, Lo-Castro A, El-Malhany N, Zollino M, Murdolo M, Orteschi D, Manca Bitti ML, Curatolo P.

Am J Med Genet A. 2010 Jan;152A(1):258-61. doi: 10.1002/ajmg.a.32931. No abstract available.

PMID:
20014124
19.

Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome.

Pardo S, Blitman N, Han B, Cohen N, Edelmann L, Hirschhorn K.

Am J Med Genet A. 2008 Jan 15;146A(2):219-24.

PMID:
18076104
20.

Wolf-Hirschhorn syndrome: a historical note and comment on an older adult.

Searle CJ, Shearing E, Quarrell OW.

Clin Dysmorphol. 2013 Oct;22(4):149-51. doi: 10.1097/MCD.0000000000000005. No abstract available.

PMID:
24326957

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