169 related articles for article (PubMed ID: 25900228)
1. A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.
Landais E; Leroy C; Kleinfinger P; Brunet S; Koubi V; Pietrement C; Poli-Mérol ML; Fiquet C; Souchon PF; Beri M; Jonveaux P; Garnotel R; Gaillard D; Doco-Fenzy M
Am J Med Genet A; 2015 Jun; 167(6):1275-84. PubMed ID: 25900228
[TBL] [Abstract][Full Text] [Related]
2. Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1.
Silipigni R; Monfrini E; Baccarin M; Giangiobbe S; Lalatta F; Guerneri S; Bedeschi MF
Cytogenet Genome Res; 2017; 153(2):73-80. PubMed ID: 29258113
[TBL] [Abstract][Full Text] [Related]
3. Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).
Spreiz A; Müller D; Zotter S; Albrecht U; Baumann M; Fauth C; Erdel M; Zschocke J; Utermann G; Kotzot D
Am J Med Genet A; 2010 Nov; 152A(11):2762-7. PubMed ID: 20954245
[TBL] [Abstract][Full Text] [Related]
4. Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder.
Matoso E; Melo JB; Ferreira SI; Jardim A; Castelo TM; Weise A; Carreira IM
Am J Med Genet A; 2013 Aug; 161A(8):1923-8. PubMed ID: 23824631
[TBL] [Abstract][Full Text] [Related]
5. Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity.
Knijnenburg J; Uytdewilligen MEW; van Hassel DACM; Oostenbrink R; Eussen BHJ; de Klein A; Brooks AS; van Zutven LJCM
Eur J Med Genet; 2017 Sep; 60(9):445-450. PubMed ID: 28602932
[TBL] [Abstract][Full Text] [Related]
6. Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.
Wieczorek D; Engels H; Viersbach R; Henke B; Schwanitz G; Passarge E
J Med Genet; 1998 Jul; 35(7):545-53. PubMed ID: 9678698
[TBL] [Abstract][Full Text] [Related]
7. The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.
Sanmann JN; Casas KA; Bevilacqua J; Bishay DL; Clark T; Van Dyke AZ; Leiferman PC; Reddi HV; Starr LJ
Am J Med Genet A; 2016 Sep; 170(9):2416-20. PubMed ID: 27338032
[TBL] [Abstract][Full Text] [Related]
8. Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring.
Domínguez MG; Rivera H; Aguilar-Lemarroy A; Jave-Suarez LF; Ramírez-Velazco A; González-Ramos IA; Barros-Núñez P; Partida-Pérez M; Gutiérrez-Amavizca BE; Brambila-Tapia AJ; Figuera LE
Clin Dysmorphol; 2017 Oct; 26(4):209-216. PubMed ID: 28737552
[TBL] [Abstract][Full Text] [Related]
9. Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome Derived from an Inherited Intrachromosomal Insertion.
Joaquim TM; Roy SD; de Albuquerque CGP; Grangeiro CHP; Squire JA; Yoshimoto M; Martelli L
Cytogenet Genome Res; 2023; 163(1-2):24-31. PubMed ID: 37482055
[TBL] [Abstract][Full Text] [Related]
10. 15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.
Koochek M; Harvard C; Hildebrand MJ; Van Allen M; Wingert H; Mickelson E; Holden JJ; Rajcan-Separovic E; Lewis ME
Clin Genet; 2006 Feb; 69(2):124-34. PubMed ID: 16433693
[TBL] [Abstract][Full Text] [Related]
11. Relatives with opposite chromosome constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a familial pericentric inversion.
Ciuladaite Z; Preiksaitiene E; Utkus A; Kučinskas V
Cytogenet Genome Res; 2014; 144(2):109-13. PubMed ID: 25401700
[TBL] [Abstract][Full Text] [Related]
12. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
El-Hattab AW; Fang P; Jin W; Hughes JR; Gibson JB; Patel GS; Grange DK; Manwaring LP; Patel A; Stankiewicz P; Cheung SW
J Med Genet; 2011 Dec; 48(12):840-50. PubMed ID: 21984752
[TBL] [Abstract][Full Text] [Related]
13. Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four-generation family.
Mohamed AM; Kamel A; Mahmoud W; Abdelraouf E; Meguid N
Am J Med Genet A; 2015 Jan; 167A(1):128-36. PubMed ID: 25425358
[TBL] [Abstract][Full Text] [Related]
14. Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.
Piard J; Philippe C; Marvier M; Beneteau C; Roth V; Valduga M; Béri M; Bonnet C; Grégoire MJ; Jonveaux P; Leheup B
Am J Med Genet A; 2010 Aug; 152A(8):1933-41. PubMed ID: 20635369
[TBL] [Abstract][Full Text] [Related]
15. De novo inverted duplication 9p21pter involving telomeric repeated sequences.
Sanlaville D; Baumann C; Lapierre JM; Romana S; Collot N; Cacheux V; Turleau C; Tachdjian G
Am J Med Genet; 1999 Mar; 83(2):125-31. PubMed ID: 10190483
[TBL] [Abstract][Full Text] [Related]
16. A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.
Pramparo T; de Gregori M; Gimelli S; Ciccone R; Frondizi D; Liehr T; Pellacani S; Masi G; Brovedani P; Zuffardi O; Guerrini R
Am J Med Genet A; 2008 Jul; 146A(13):1754-60. PubMed ID: 18546282
[TBL] [Abstract][Full Text] [Related]
17. Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S419-D16S503).
Stratakis CA; Lafferty A; Taymans SE; Gafni RI; Meck JM; Blancato J
J Clin Endocrinol Metab; 2000 Sep; 85(9):3396-401. PubMed ID: 10999840
[TBL] [Abstract][Full Text] [Related]
18. Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.
Szabó GP; Knegt AC; Ujfalusi A; Balogh E; Szabó T; Oláh É
Am J Med Genet A; 2012 Apr; 158A(4):869-76. PubMed ID: 22407767
[TBL] [Abstract][Full Text] [Related]
19. Familial trisomy 6p in mother and daughter.
Savarese M; Grandone A; Perone L; Blanco Fdel V; De Luca G; Di Fruscio G; Fogu G; Piluso G; Perrone L; del Giudice EM; Nigro V
Am J Med Genet A; 2013 Jul; 161A(7):1675-81. PubMed ID: 23687068
[TBL] [Abstract][Full Text] [Related]
20. Inherited duplication of the short arm of chromosome 18p11.32-p11.31 associated with developmental delay/intellectual disability.
Balasubramanian M; Sithambaram S; Smith K
Clin Dysmorphol; 2016 Jan; 25(1):19-22. PubMed ID: 26287558
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
