Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 163

Similar articles for PubMed (Select 23197114)

1.

Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome.

Adachi H, Takahashi I, Higashimoto K, Tsuchida S, Noguchi A, Tamura H, Arai H, Ito T, Masue M, Nishibori H, Takahashi T, Soejima H.

Endocr J. 2013;60(4):403-8. Epub 2012 Nov 30.

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, Jule ML, 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, Bouc YL, Rossignol S.

Hum Mutat. 2015 Jun 16. doi: 10.1002/humu.22824. [Epub ahead of print]

PMID:
26077438
3.

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

Jurkiewicz D, Kugaudo M, Tańska A, Wawrzkiewicz-Witkowska A, Tomaszewska A, Kucharczyk M, Cieślikowska A, Ciara E, Krajewska-Walasek M.

Pediatr Int. 2015 Jun;57(3):486-91. doi: 10.1111/ped.12611. Epub 2015 May 27.

PMID:
26012727
4.

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB.

Eur J Hum Genet. 2015 Apr 22. doi: 10.1038/ejhg.2015.88. [Epub ahead of print]

PMID:
25898929
5.

The Clinical Course of an Overgrowth Syndrome, From Diagnosis in Infancy Through Adulthood: The Case of Beckwith-Wiedemann Syndrome.

Pappas JG.

Curr Probl Pediatr Adolesc Health Care. 2015 Apr;45(4):112-117. doi: 10.1016/j.cppeds.2015.03.001. Epub 2015 Apr 7. Review.

PMID:
25861997
6.

[Case of combination of Beckwith-Wiedemann syndrome with West syndrome].

[No authors listed]

Vestn Ross Akad Med Nauk. 2014;(9-10):64-9. Russian.

PMID:
25816645
7.

Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism.

Lee BH, Lee J, Kim JM, Kang M, Kim GH, Choi JH, Kim J, Kim CJ, Kim DY, Kim SC, Yoo HW.

Horm Res Paediatr. 2015;83(3):204-10. doi: 10.1159/000371445. Epub 2015 Mar 5.

PMID:
25765446
8.

Meningocele in a congolese female with beckwith-wiedemann phenotype.

Mbuyi-Musanzayi S, Lubala Kasole T, Lumaka A, Kayembe Kitenge T, Kabamba Ngombe L, Kalenga Muenze P, Lukusa Tshilobo P, Tshilombo Katombe F, Banza Lubaba Nkulu C, Devriendt K.

Case Rep Genet. 2014;2014:989425. doi: 10.1155/2014/989425. Epub 2014 Dec 28.

9.

Cystic fibrosis and beckwith-wiedemann syndrome: a case report.

Aguiar C, Correia-Costa L, Eden P, Guedes-Vaz L.

J Clin Med Res. 2015 Mar;7(3):186-8. doi: 10.14740/jocmr2003w. Epub 2014 Dec 29.

10.

Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.

Takama Y, Kubota A, Nakayama M, Higashimoto K, Jozaki K, Soejima H.

Pediatr Int. 2014 Dec;56(6):931-4. doi: 10.1111/ped.12406.

PMID:
25521982
11.

Genome-wide paternal uniparental disomy as a cause of beckwith-wiedemann syndrome associated with recurrent virilizing adrenocortical tumors.

Bertoin F, Letouzé E, Grignani P, Patey M, Rossignol S, Libé R, Pasqual C, Lardière-Deguelte S, Hoeffel-Fornes C, Gaillard D, Previderè C, Delemer B, Lalli E.

Horm Metab Res. 2015 Jun;47(7):497-503. doi: 10.1055/s-0034-1394371. Epub 2014 Nov 3.

PMID:
25365508
12.

Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia.

Al-Zubeidi H, Gottschalk ME, Newfield RS.

Int J Pediatr Endocrinol. 2014;2014(1):18. doi: 10.1186/1687-9856-2014-18. Epub 2014 Sep 15.

13.

Paternal uniparental disomy of chromosome 14.

Sargar KM, Herman TE, Siegel MJ.

J Perinatol. 2014 Sep;34(9):723-5. doi: 10.1038/jp.2014.24. No abstract available.

PMID:
25179385
14.

Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome.

Ohtsuka Y, Higashimoto K, Sasaki K, Jozaki K, Yoshinaga H, Okamoto N, Takama Y, Kubota A, Nakayama M, Yatsuki H, Nishioka K, Joh K, Mukai T, Yoshiura KI, Soejima H.

Clin Genet. 2014 Aug 29. doi: 10.1111/cge.12496. [Epub ahead of print]

PMID:
25171146
15.

A late onset sickle cell disease reveals a mosaic segmental uniparental isodisomy of chromosome 11p15.

Vinatier I, Martin X, Costa JM, Bazin A, Giraudier S, Joly P.

Blood Cells Mol Dis. 2015 Jan;54(1):53-5. doi: 10.1016/j.bcmd.2014.07.021. Epub 2014 Aug 20.

PMID:
25159120
16.

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects.

Ibrahim A, Kirby G, Hardy C, Dias RP, Tee L, Lim D, Berg J, MacDonald F, Nightingale P, Maher ER.

Clin Epigenetics. 2014 Jun 4;6(1):11. doi: 10.1186/1868-7083-6-11. eCollection 2014.

17.

Congenital hyperinsulinism in a newborn with a novel homozygous mutation (p.Q392H) in the ABCC8 gene.

Ince DA, Sahin NM, Ecevit A, Kurt A, Kinik ST, Flanagan SE, Hussain K, Tarcan A.

J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1253-5. doi: 10.1515/jpem-2014-0072.

PMID:
24945427
18.

A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infant.

Durmaz E, Flanagan SE, Parlak M, Ellard S, Akcurin S, Bircan I.

J Clin Res Pediatr Endocrinol. 2014;6(2):119-21. doi: 10.4274/Jcrpe.1230.

19.

The significance of molecular studies in the long-term follow-up of children with beckwith- wiedemann syndrome.

Gizewska M, Wilk M, Patalan M, Mackay D, Peregud-Pegorzelski J, Gawrych E, Walczak M, Petriczko E, Brodkiewicz A.

Turk J Pediatr. 2014 Mar-Apr;56(2):177-82.

20.

Genetic syndromes associated with overgrowth in childhood.

Ko JM.

Ann Pediatr Endocrinol Metab. 2013 Sep;18(3):101-5. doi: 10.6065/apem.2013.18.3.101. Epub 2013 Sep 30. Review.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk