185 related articles for article (PubMed ID: 30797057)
1. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism.
Christesen HT; Christensen LG; Löfgren ÅM; Brøndum-Nielsen K; Svensson J; Brusgaard K; Samuelsson S; Elfving M; Jonson T; Grønskov K; Rasmussen L; Backman T; Hansen LK; Larsen AR; Petersen H; Detlefsen S
Eur J Med Genet; 2020 Jan; 63(1):103632. PubMed ID: 30797057
[TBL] [Abstract][Full Text] [Related]
2. Mosaic paternal genome-wide uniparental isodisomy with down syndrome.
Darcy D; Atwal PS; Angell C; Gadi I; Wallerstein R
Am J Med Genet A; 2015 Oct; 167A(10):2463-9. PubMed ID: 26219535
[TBL] [Abstract][Full Text] [Related]
3. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
Gripp KW; Robbins KM; Sheffield BS; Lee AF; Patel MS; Yip S; Doyle D; Stabley D; Sol-Church K
Am J Med Genet A; 2016 Mar; 170(3):559-64. PubMed ID: 26572961
[TBL] [Abstract][Full Text] [Related]
4. Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.
Gogiel M; Begemann M; Spengler S; Soellner L; Göretzlehner U; Eggermann T; Strobl-Wildemann G
Eur J Hum Genet; 2013 Jul; 21(7):788-91. PubMed ID: 23188046
[TBL] [Abstract][Full Text] [Related]
5. Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.
Inbar-Feigenberg M; Choufani S; Cytrynbaum C; Chen YA; Steele L; Shuman C; Ray PN; Weksberg R
Am J Med Genet A; 2013 Jan; 161A(1):13-20. PubMed ID: 23239666
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 23197114
[TBL] [Abstract][Full Text] [Related]
7. Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
Romanelli V; Meneses HN; Fernández L; Martínez-Glez V; Gracia-Bouthelier R; F Fraga M; Guillén E; Nevado J; Gean E; Martorell L; Marfil VE; García-Miñaur S; Lapunzina P
Eur J Hum Genet; 2011 Apr; 19(4):416-21. PubMed ID: 21248736
[TBL] [Abstract][Full Text] [Related]
8. Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith-Wiedemann spectrum.
Lee CT; Tung YC; Hwu WL; Shih JC; Lin WH; Wu MZ; Kuo KT; Yang YL; Chen HL; Chen M; Su YN; Jong YJ; Liu SY; Tsai WY; Lee NC
Am J Med Genet A; 2019 Sep; 179(9):1878-1883. PubMed ID: 31231953
[TBL] [Abstract][Full Text] [Related]
9. Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Sheppard SE; Lalonde E; Adzick NS; Beck AE; Bhatti T; De Leon DD; Duffy KA; Ganguly A; Hathaway E; Ji J; Linn R; Lord K; Randolph LM; Sajorda B; States L; Conlin LK; Kalish JM
Genet Med; 2019 Nov; 21(11):2644-2649. PubMed ID: 31147633
[TBL] [Abstract][Full Text] [Related]
10. Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p.
Zarate YA; Shur N; Robin A; Garnica AD; Quintos JB; Schaefer GB
J Pediatr Endocrinol Metab; 2014 Sep; 27(9-10):951-5. PubMed ID: 24756053
[TBL] [Abstract][Full Text] [Related]
11. Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy.
Kocaay P; Şiklar Z; Ellard S; Yagmurlu A; Çamtosun E; Erden E; Berberoglu M; Flanagan SE
Horm Res Paediatr; 2016; 85(6):421-5. PubMed ID: 27173951
[TBL] [Abstract][Full Text] [Related]
12. Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.
Choufani S; Ko JM; Lou Y; Shuman C; Fishman L; Weksberg R
Genes (Basel); 2021 Jan; 12(2):. PubMed ID: 33513760
[TBL] [Abstract][Full Text] [Related]
13. Genome-wide androgenetic mosaicism.
Johnson JP; Waterson J; Schwanke C; Schoof J
Clin Genet; 2014 Mar; 85(3):282-5. PubMed ID: 23509941
[TBL] [Abstract][Full Text] [Related]
14. Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.
Kalish JM; Boodhansingh KE; Bhatti TR; Ganguly A; Conlin LK; Becker SA; Givler S; Mighion L; Palladino AA; Adzick NS; De León DD; Stanley CA; Deardorff MA
J Med Genet; 2016 Jan; 53(1):53-61. PubMed ID: 26545876
[TBL] [Abstract][Full Text] [Related]
15. The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports.
Wilson M; Peters G; Bennetts B; McGillivray G; Wu ZH; Poon C; Algar E
Am J Med Genet A; 2008 Jan; 146A(2):137-48. PubMed ID: 18033734
[TBL] [Abstract][Full Text] [Related]
16. Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.
Calton EA; Temple IK; Mackay DJ; Lever M; Ellard S; Flanagan SE; Davies JH; Hussain K; Gray JC
Eur J Med Genet; 2013 Feb; 56(2):114-7. PubMed ID: 23261959
[TBL] [Abstract][Full Text] [Related]
17. 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; 2015 Sep; 88(3):261-6. PubMed ID: 25171146
[TBL] [Abstract][Full Text] [Related]
18. Multiple tumors due to mosaic genome-wide paternal uniparental disomy.
Postema FAM; Bliek J; van Noesel CJM; van Zutven LJCM; Oosterwijk JC; Hopman SMJ; Merks JHM; Hennekam RC
Pediatr Blood Cancer; 2019 Jun; 66(6):e27715. PubMed ID: 30882989
[TBL] [Abstract][Full Text] [Related]
19. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
Russo S; Calzari L; Mussa A; Mainini E; Cassina M; Di Candia S; Clementi M; Guzzetti S; Tabano S; Miozzo M; Sirchia S; Finelli P; Prontera P; Maitz S; Sorge G; Calcagno A; Maghnie M; Divizia MT; Melis D; Manfredini E; Ferrero GB; Pecile V; Larizza L
Clin Epigenetics; 2016; 8():23. PubMed ID: 26933465
[TBL] [Abstract][Full Text] [Related]
20. Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
Kalish JM; Conlin LK; Bhatti TR; Dubbs HA; Harris MC; Izumi K; Mostoufi-Moab S; Mulchandani S; Saitta S; States LJ; Swarr DT; Wilkens AB; Zackai EH; Zelley K; Bartolomei MS; Nichols KE; Palladino AA; Spinner NB; Deardorff MA
Am J Med Genet A; 2013 Aug; 161A(8):1929-39. PubMed ID: 23804593
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]