122 related articles for article (PubMed ID: 38311550)
1. [Clinical and genetic analysis of ten Chinese pedigrees affected with 7q11.23 duplication syndrome].
Shi P; Liu Y; Hou Y; Chen D; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Feb; 41(2):140-144. PubMed ID: 38311550
[TBL] [Abstract][Full Text] [Related]
2. [Prenatal ultrasonographic manifestations and genetic diagnosis of nine fetuses with 7q11.23 duplication syndrome].
Li P; Guo J; Che J; Cui F; Lyu Y; Zhang H; Li Y; Liu L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Mar; 41(3):266-270. PubMed ID: 38448012
[TBL] [Abstract][Full Text] [Related]
3. Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Courdier C; Boudjarane J; Malan V; Muti C; Sperelakis-Beedham B; Odent S; Jaillard S; Quelin C; Le Caignec C; Patat O; Dubucs C; Julia S; Schluth-Bolard C; Goumy C; Redon S; Gaillard JB; Huynh MT; Dupont C; Tabet AC; Cogan G; Vialard F; Dard R; Jedraszak G; Jobic F; Lefebvre M; Quenum G; Inai S; Rama M; Sauvestre F; Coatleven F; Thomas J; Rooryck C
Prenat Diagn; 2023 Jun; 43(6):734-745. PubMed ID: 36914926
[TBL] [Abstract][Full Text] [Related]
4. Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience.
Liang B; Yu D; Zhao W; Wang Y; Wu X; Chen L; Lin N; Huang H; Xu L
BMC Med Genomics; 2022 Dec; 15(1):268. PubMed ID: 36544138
[TBL] [Abstract][Full Text] [Related]
5. [Prenatal diagnosis of five fetuses with 7q11.23 microdeletion or microduplication].
Liang B; Wang Y; Chen L; Huang H; Chen X; He D; Xu L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov; 38(11):1064-1067. PubMed ID: 34729744
[TBL] [Abstract][Full Text] [Related]
6. Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.
Borlot F; Regan BM; Bassett AS; Stavropoulos DJ; Andrade DM
JAMA Neurol; 2017 Nov; 74(11):1301-1311. PubMed ID: 28846756
[TBL] [Abstract][Full Text] [Related]
7. Genetic analysis of a pedigree with MECP2 duplication syndrome in China.
Zeng L; Zhu H; Wang J; Wang Q; Pang Y; Luo Z; Chen A; Qin S; Zhu S
BMC Med Genomics; 2024 Feb; 17(1):54. PubMed ID: 38373942
[TBL] [Abstract][Full Text] [Related]
8. Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
Li X; Xie H; Chen Q; Yu X; Yi Z; Li E; Zhang T; Wang J; Zhong J; Chen X
BMC Med Genet; 2017 Nov; 18(1):131. PubMed ID: 29141583
[TBL] [Abstract][Full Text] [Related]
9. Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Mulle JG; Pulver AE; McGrath JA; Wolyniec PS; Dodd AF; Cutler DJ; Sebat J; Malhotra D; Nestadt G; Conrad DF; Hurles M; Barnes CP; Ikeda M; Iwata N; Levinson DF; Gejman PV; Sanders AR; Duan J; Mitchell AA; Peter I; Sklar P; O'Dushlaine CT; Grozeva D; O'Donovan MC; Owen MJ; Hultman CM; Kähler AK; Sullivan PF; ; Kirov G; Warren ST
Biol Psychiatry; 2014 Mar; 75(5):371-7. PubMed ID: 23871472
[TBL] [Abstract][Full Text] [Related]
10. Autism, language delay and mental retardation in a patient with 7q11 duplication.
Depienne C; Heron D; Betancur C; Benyahia B; Trouillard O; Bouteiller D; Verloes A; LeGuern E; Leboyer M; Brice A
J Med Genet; 2007 Jul; 44(7):452-8. PubMed ID: 17400790
[TBL] [Abstract][Full Text] [Related]
11. Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.
Yi Z; Pan H; Li L; Wu H; Wang S; Ma Y; Qi Y
Eur J Med Genet; 2016 Jun; 59(6-7):347-53. PubMed ID: 27180140
[TBL] [Abstract][Full Text] [Related]
12. A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication.
Zhuang J; Wang Y; Zeng S; Lv C; Lin Y; Jiang Y
Mol Cytogenet; 2019; 12():50. PubMed ID: 31857824
[TBL] [Abstract][Full Text] [Related]
13. Phenotype of 7q11.23 duplication: A family clinical series.
Earhart BA; Williams ME; Zamora I; Randolph LM; Votava-Smith JK; Marcy SN
Am J Med Genet A; 2017 Jan; 173(1):114-119. PubMed ID: 27615053
[TBL] [Abstract][Full Text] [Related]
14. [Clinical phenotype and genetic analysis of MECP2 duplication syndrome].
Chen D; Wang L; Hou Y; Shi P; Qin G; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec; 38(12):1190-1193. PubMed ID: 34839504
[TBL] [Abstract][Full Text] [Related]
15. Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
Torniero C; Dalla Bernardina B; Novara F; Cerini R; Bonaglia C; Pramparo T; Ciccone R; Guerrini R; Zuffardi O
Eur J Hum Genet; 2008 Aug; 16(8):880-7. PubMed ID: 18337728
[TBL] [Abstract][Full Text] [Related]
16. Copy number variations in Saudi family with intellectual disability and epilepsy.
Naseer MI; Chaudhary AG; Rasool M; Kalamegam G; Ashgan FT; Assidi M; Ahmed F; Ansari SA; Zaidi SK; Jan MM; Al-Qahtani MH
BMC Genomics; 2016 Oct; 17(Suppl 9):757. PubMed ID: 27766957
[TBL] [Abstract][Full Text] [Related]
17. Prenatal ultrasound features and genetic analysis for 17q12 microdeletion syndrome.
Zhang Z; Pan L; Chen K; Tan R
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2021 Dec; 46(12):1370-1374. PubMed ID: 35232906
[TBL] [Abstract][Full Text] [Related]
18. Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.
Ward DI; Buckley BA; Leon E; Diaz J; Galegos MF; Hofherr S; Lewanda AF
Am J Med Genet A; 2018 Mar; 176(3):551-559. PubMed ID: 29341460
[TBL] [Abstract][Full Text] [Related]
19. [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome].
Li J; Xu J; She M; Shi P; Kong X; Wang L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov; 39(11):1228-1232. PubMed ID: 36317208
[TBL] [Abstract][Full Text] [Related]
20. Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy.
Chien YC; Chen JS; Shiao YM; Hsiao CH
Taiwan J Obstet Gynecol; 2022 May; 61(3):501-503. PubMed ID: 35595445
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
