142 related articles for article (PubMed ID: 30882989)
1. 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]
2. 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]
3. 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]
4. Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?
Maas SM; Krzyzewska IM; Lombardi MPR; Mannens MMA; Vos N; Bliek J
Eur J Hum Genet; 2023 Jun; 31(6):615-616. PubMed ID: 37012326
[No Abstract] [Full Text] [Related]
5. 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]
6. 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]
7. Case Report of Infant With Features of Beckwith-Wiedemann Syndrome Diagnosed With Genome-wide Uniparental Disomy.
Reed JA; Crotwell PL; Stein Q; Mroch A; Davis-Keppen L; Khan A
S D Med; 2017 Nov; 70(11):505-509. PubMed ID: 29088522
[TBL] [Abstract][Full Text] [Related]
8. 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]
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. 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]
11. 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]
12. 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]
13. 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]
14. SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.
Keren B; Chantot-Bastaraud S; Brioude F; Mach C; Fonteneau E; Azzi S; Depienne C; Brice A; Netchine I; Le Bouc Y; Siffroi JP; Rossignol S
Eur J Med Genet; 2013 Oct; 56(10):546-50. PubMed ID: 23892181
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.
Romanelli V; Nevado J; Fraga M; Trujillo AM; Mori MÁ; Fernández L; Pérez de Nanclares G; Martínez-Glez V; Pita G; Meneses H; Gracia R; García-Miñaur S; García de Miguel P; Lecumberri B; Rodríguez JI; González Neira A; Monk D; Lapunzina P
J Med Genet; 2011 Mar; 48(3):212-6. PubMed ID: 21097775
[TBL] [Abstract][Full Text] [Related]
17. [Uniparental disomy of chromosome 11 in a patient with Beckwith-Wiedemann syndrome. First reported case in Iceland].
Pálsson GI; Finnsdóttir V; Jóhannsson JH; Ingvarsson S
Laeknabladid; 2005 Nov; 91(11):837-40. PubMed ID: 16264244
[TBL] [Abstract][Full Text] [Related]
18. Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays.
Liu W; Zhang R; Wei J; Zhang H; Yu G; Li Z; Chen M; Sun X
Cytogenet Genome Res; 2015; 146(1):9-18. PubMed ID: 26184742
[TBL] [Abstract][Full Text] [Related]
19. Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.
Kalish JM; Conlin LK; Mostoufi-Moab S; Wilkens AB; Mulchandani S; Zelley K; Kowalski M; Bhatti TR; Russo P; Mattei P; Mackenzie WG; LiVolsi V; Nichols KE; Biegel JA; Spinner NB; Deardorff MA
Am J Med Genet A; 2013 May; 161A(5):993-1001. PubMed ID: 23532898
[TBL] [Abstract][Full Text] [Related]
20. Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge.
Bens S; Luedeke M; Richter T; Graf M; Kolarova J; Barbi G; Lato K; Barth TF; Siebert R
Clin Epigenetics; 2017; 9():111. PubMed ID: 29046733
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
