145 related articles for article (PubMed ID: 34093647)
21. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
Vanlerberghe C; Petit F; Malan V; Vincent-Delorme C; Bouquillon S; Boute O; Holder-Espinasse M; Delobel B; Duban B; Vallee L; Cuisset JM; Lemaitre MP; Vantyghem MC; Pigeyre M; Lanco-Dosen S; Plessis G; Gerard M; Decamp M; Mathieu M; Morin G; Jedraszak G; Bilan F; Gilbert-Dussardier B; Fauvert D; Roume J; Cormier-Daire V; Caumes R; Puechberty J; Genevieve D; Sarda P; Pinson L; Blanchet P; Lemeur N; Sheth F; Manouvrier-Hanu S; Andrieux J
Eur J Med Genet; 2015 Mar; 58(3):140-7. PubMed ID: 25596525
[TBL] [Abstract][Full Text] [Related]
22. Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review.
Zhuang J; Liu S; Chen X; Jiang Y; Chen C
Mol Cytogenet; 2023 Aug; 16(1):18. PubMed ID: 37533110
[TBL] [Abstract][Full Text] [Related]
23. The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
Wayhelova M; Smetana J; Vallova V; Hladilkova E; Filkova H; Hanakova M; Vilemova M; Nikolova P; Gromesova B; Gaillyova R; Kuglik P
BMC Med Genomics; 2019 Jul; 12(1):111. PubMed ID: 31337399
[TBL] [Abstract][Full Text] [Related]
24. Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Preikšaitienė E; Ambrozaitytė L; Maldžienė Ž; Morkūnienė A; Cimbalistienė L; Rančelis T; Utkus A; Kučinskas V
Acta Med Litu; 2016; 23(2):73-85. PubMed ID: 28356794
[TBL] [Abstract][Full Text] [Related]
25. Identification of 1q21.1 microduplication in a family: A case report.
Huang TT; Xu HF; Wang SY; Lin WX; Tung YH; Khan KU; Zhang HH; Guo H; Zheng G; Zhang G
World J Clin Cases; 2023 Feb; 11(4):874-882. PubMed ID: 36818619
[TBL] [Abstract][Full Text] [Related]
26. Large De Novo Microdeletion in Epilepsy with Intellectual and Developmental Disabilities, with a Systems Biology Analysis.
Gao K; Zhang Y; Zhang L; Kong W; Xie H; Wang J; Wu Y; Wu X; Liu X; Zhang Y; Zhang F; Yu AC; Jiang Y
Adv Neurobiol; 2018; 21():247-266. PubMed ID: 30334225
[TBL] [Abstract][Full Text] [Related]
27. Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches.
Granata P; Cocciadiferro D; Zito A; Pessina C; Bassani A; Zambonin F; Novelli A; Fasano M; Casalone R
Front Genet; 2022; 13():798607. PubMed ID: 35368691
[TBL] [Abstract][Full Text] [Related]
28. Intellectual Disability in Two Brothers Caused by De Novo Novel Unbalanced Translocation (13;18) (q34,q23) and De Novo Microdeletion 6q25 Syndrome.
Alhashem AM; Almohaid MS; Alanazi L; Alhabardi H
Cureus; 2020 Jan; 12(1):e6778. PubMed ID: 32010537
[TBL] [Abstract][Full Text] [Related]
29. An evaluation of copy number variation detection tools for cancer using whole exome sequencing data.
Zare F; Dow M; Monteleone N; Hosny A; Nabavi S
BMC Bioinformatics; 2017 May; 18(1):286. PubMed ID: 28569140
[TBL] [Abstract][Full Text] [Related]
30. A chromosome 1q22 microdeletion including
Xi H; Peng Y; Xie W; Pang J; Ma N; Yang S; Peng J; Wang H
Mol Cytogenet; 2020; 13():20. PubMed ID: 32518592
[TBL] [Abstract][Full Text] [Related]
31. A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.
Lebedev IN; Nazarenko LP; Skryabin NA; Babushkina NP; Kashevarova AA
Am J Med Genet A; 2016 Aug; 170(8):2089-96. PubMed ID: 27288323
[TBL] [Abstract][Full Text] [Related]
32. [Study of
Gao ZJ; Jiang Q; Chen XL; Chen Q; Ji XN; Mao YY; Feng S; Dong JJ; Xu KM
Zhonghua Yi Xue Za Zhi; 2018 Nov; 98(42):3426-3432. PubMed ID: 30440138
[No Abstract] [Full Text] [Related]
33. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Dennert N; Engels H; Cremer K; Becker J; Wohlleber E; Albrecht B; Ehret JK; Lüdecke HJ; Suri M; Carignani G; Renieri A; Kukuk GM; Wieland T; Andrieux J; Strom TM; Wieczorek D; Dieux-Coëslier A; Zink AM
Am J Med Genet A; 2017 Feb; 173(2):435-443. PubMed ID: 27862890
[TBL] [Abstract][Full Text] [Related]
34. [Phenotypic and genetic analysis of a child with multiple malformations due to 10p13p15.3 duplication].
Xu X; Zhang T; Shen Y; Zheng J; Yang R
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Feb; 37(2):170-174. PubMed ID: 32034748
[TBL] [Abstract][Full Text] [Related]
35. Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome
Li Q; Zhu X; Wang C; Meng J; Chen D; Kong X
Front Genet; 2021; 12():707411. PubMed ID: 34616427
[TBL] [Abstract][Full Text] [Related]
36. Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.
Hancarova M; Vejvalkova S; Trkova M; Drabova J; Dleskova A; Vlckova M; Sedlacek Z
Gene; 2013 Mar; 516(1):158-61. PubMed ID: 23266801
[TBL] [Abstract][Full Text] [Related]
37. [Detection of genomic copy number variations in patients with unexplained mental retardation/developmental delay by low coverage whole-genome sequencing].
Song H; Shi P; Xiao Y; Hou Y; Chen D; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Sep; 37(9):953-957. PubMed ID: 32820506
[TBL] [Abstract][Full Text] [Related]
38. De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
Yates TM; Vasudevan PC; Chandler KE; Donnelly DE; Stark Z; Sadedin S; Willoughby J; ; ; Balasubramanian M
Am J Med Genet A; 2017 Nov; 173(11):3003-3012. PubMed ID: 28944577
[TBL] [Abstract][Full Text] [Related]
39. Genomic Analysis of Korean Patient With Microcephaly.
Lee J; Park JE; Lee C; Kim AR; Kim BJ; Park WY; Ki CS; Lee J
Front Genet; 2020; 11():543528. PubMed ID: 33584783
[TBL] [Abstract][Full Text] [Related]
40. A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion.
Lloveras E; Canellas A; Barranco L; Alves C; Vila-Real M; Ventura V; Fernández D; Mendez B; Piqué M; Reis-Lima M; de la Iglesia C; Palau N; Costa M; Yeste D; Auge M; Perez C
Cytogenet Genome Res; 2019; 159(3):126-129. PubMed ID: 31830750
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
