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Items: 1 to 20 of 102

1.

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
2.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.

Brioude F, Netchine I, Praz F, Le Jule M, Calmel C, Lacombe D, Edery P, Catala M, Odent S, Isidor B, Lyonnet S, Sigaudy S, Leheup B, Audebert-Bellanger S, Burglen L, Giuliano F, Alessandri JL, Cormier-Daire V, Laffargue F, Blesson S, Coupier I, Lespinasse J, Blanchet P, Boute O, Baumann C, Polak M, Doray B, Verloes A, Viot G, Le Bouc Y, Rossignol S.

Hum Mutat. 2015 Sep;36(9):894-902. doi: 10.1002/humu.22824. Epub 2015 Aug 6.

PMID:
26077438
3.

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
4.

Beckwith-Wiedemann Syndrome Revisited.

Soussi-Zander C.

Hum Mutat. 2015 Sep;36(9):iii. doi: 10.1002/humu.22662. No abstract available.

PMID:
26270560
5.

CDKN1C mutations: two sides of the same coin.

Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M.

Trends Mol Med. 2014 Nov;20(11):614-22. doi: 10.1016/j.molmed.2014.09.001. Epub 2014 Sep 25. Review.

PMID:
25262539
6.

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
7.

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
8.

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

Eggermann T, Algar E, Lapunzina P, Mackay D, Maher ER, Mannens M, Netchine I, Prawitt D, Riccio A, Temple IK, Weksberg R.

Eur J Hum Genet. 2014 Mar;22(3). doi: 10.1038/ejhg.2013.132. Epub 2013 Jul 3. No abstract available.

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.

[Beckwith-Wiedemann syndrome].

Kosho T, Fukushima Y.

Nihon Rinsho. 2006 Sep 28;Suppl 3:587-90. Review. Japanese. No abstract available.

PMID:
17022614
11.

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
12.

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
13.
14.

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
15.

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.

16.

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E.

Nat Genet. 2012 May 27;44(7):788-92. doi: 10.1038/ng.2275.

17.

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.

18.

A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.

Kerns SL, Guevara-Aguirre J, Andrew S, Geng J, Guevara C, Guevara-Aguirre M, Guo M, Oddoux C, Shen Y, Zurita A, Rosenfeld RG, Ostrer H, Hwa V, Dauber A.

J Clin Endocrinol Metab. 2014 Oct;99(10):E2117-22. doi: 10.1210/jc.2014-1949. Epub 2014 Jul 24.

19.

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
20.

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
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