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Results: 1 to 20 of 95

Similar articles for PubMed (Select 23197429)

1.

A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases.

Kantaputra PN, Sittiwangkul R, Sonsuwan N, Romanelli V, Tenorio J, Lapunzina P.

Am J Med Genet A. 2013 Jan;161A(1):192-7. doi: 10.1002/ajmg.a.35663. Epub 2012 Nov 29.

PMID:
23197429
2.

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P.

Am J Med Genet A. 2010 Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453. Review.

PMID:
20503313
3.

Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele.

Percesepe A, Bertucci E, Ferrari P, Lugli L, Ferrari F, Mazza V, Forabosco A.

Prenat Diagn. 2008 May;28(5):447-9. doi: 10.1002/pd.1991. No abstract available.

PMID:
18395877
4.

Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome.

Chen CP.

Taiwan J Obstet Gynecol. 2007 Jun;46(2):96-102. Review.

PMID:
17638616
5.

Brain abnormalities in patients with Beckwith-Wiedemann syndrome.

Gardiner K, Chitayat D, Choufani S, Shuman C, Blaser S, Terespolsky D, Farrell S, Reiss R, Wodak S, Pu S, Ray PN, Baskin B, Weksberg R.

Am J Med Genet A. 2012 Jun;158A(6):1388-94. doi: 10.1002/ajmg.a.35358. Epub 2012 May 14.

PMID:
22585446
6.

Acute lymphocytic leukaemia in a child with Beckwith-Wiedemann syndrome harbouring a CDKN1C mutation.

Abadie C, Bernard F, Netchine I, Sanlaville D, Roque A, Rossignol S, Coupier I.

Eur J Med Genet. 2010 Nov-Dec;53(6):400-3. doi: 10.1016/j.ejmg.2010.08.006. Epub 2010 Sep 6.

PMID:
20826236
7.

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.

Lam WW, Hatada I, Ohishi S, Mukai T, Joyce JA, Cole TR, Donnai D, Reik W, Schofield PN, Maher ER.

J Med Genet. 1999 Jul;36(7):518-23.

8.

CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients.

Romanelli V, Belinchón A, Campos-Barros A, Heath KE, García-Miñaur S, Martínez-Glez V, Palomo R, Mercado G, Gracia R, Lapunzina P.

Placenta. 2009 Jun;30(6):551-4. doi: 10.1016/j.placenta.2009.03.013. Epub 2009 Apr 21.

PMID:
19386358
9.

Beckwith-Wiedemann syndrome: multiple molecular mechanisms.

Enklaar T, Zabel BU, Prawitt D.

Expert Rev Mol Med. 2006 Jul 17;8(17):1-19. Review.

PMID:
16842655
10.

Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome.

Caspary T, Cleary MA, Perlman EJ, Zhang P, Elledge SJ, Tilghman SM.

Genes Dev. 1999 Dec 1;13(23):3115-24.

11.

The Wiedemann-Beckwith syndrome in four sibs including one with associated congenital hypothyroidism.

Martínez y Martínez R, Ocampo-Campos R, Pérez-Arroyo R, Corona-Rivera E, Cantú JM.

Eur J Pediatr. 1985 Jan;143(3):233-5.

PMID:
3987723
12.

Macroglossia and ankyloglossia in Beckwith-Wiedemann syndrome.

Patterson GT, Ramasastry SS, Davis JU.

Oral Surg Oral Med Oral Pathol. 1988 Jan;65(1):29-31.

PMID:
3422394
13.

CDKN1C mutations and genital anomalies.

Welsh HI, Stockley TL, Parkinson N, Ardinger HH.

Am J Med Genet A. 2012 Jan;158A(1):265. doi: 10.1002/ajmg.a.34388. Epub 2011 Dec 2. No abstract available.

PMID:
22140035
14.

Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.

Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R.

Genomics. 2001 Jun 15;74(3):370-6. Erratum in: Genomics 2001 Sep;77(1-2):115.

PMID:
11414765
15.

Familial occurrence of the Wiedemann-Beckwith syndrome and persistent fontanel.

Sommer A, Cutler EA, Cohen BL, Harper D, Backes C.

Am J Med Genet. 1977;1(1):59-63.

PMID:
610426
16.

Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome.

Diaz-Meyer N, Yang Y, Sait SN, Maher ER, Higgins MJ.

J Med Genet. 2005 Aug;42(8):648-55.

17.

Imprinting disruption of the CDKN1C/KCNQ1OT1 domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancer.

Higashimoto K, Soejima H, Saito T, Okumura K, Mukai T.

Cytogenet Genome Res. 2006;113(1-4):306-12.

PMID:
16575194
18.

Prenatal diagnosis of the Beckwith-Wiedemann syndrome.

Winter SC, Curry CJ, Smith JC, Kassel S, Miller L, Andrea J.

Am J Med Genet. 1986 May;24(1):137-41.

PMID:
3518454
19.

Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome.

Gaston V, Le Bouc Y, Soupre V, Vazquez MP, Gicquel C.

Horm Res. 2000;54(1):1-5.

PMID:
11182628
20.
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