Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication

Authors: Rita Quental, Diana Pinho, Natália Tkachenko, Diana Gonzaga, Maria do Céu Mota, Cristina Garrido, Carla Carmona, Sofia Quental, Ana Maria Fortuna, Célia Azevedo Soares

Source: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-4 (2024)

Subject Terms: NF1, 16p13.11, Alu insertion, Coexisting disorders, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2090-2441

Access URL: https://doaj.org/article/cfb400650cd94a818d9ff88d77034158

Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case report

Authors: Lanlan Mi, Ruen Yao, Weiwei Guo, Jian Wang, Guoqing Zhang, Xiuxia Ye

Source: BMC Pediatrics, Vol 24, Iss 1, Pp 1-6 (2024)

Subject Terms: MACF1 mutation, 16p13.11 microduplication syndrome, Neonate, Congenital malformations, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/59b165c410704e1fae2de1f299bd75f5

Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome

Authors: Yan Zhao, Lina Song, Shuxia Zhang, Fei Hou, Shan Shan, Hua Jin

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: 16p13.11, SNP-array, microduplication, CNVs, prenatal diagnosis, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1486974/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/935f44da9e604d21bcb6673acc1b3125

De novo and inherited micro-CNV at 16p13.11 in 21 Chinese patients with defective cardiac left-right patterning

Authors: Kun Yu, Weicheng Chen, Yan Chen, Libing Shen, Boxuan Wu, Yuan Zhang, Xiangyu Zhou

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: 16p13.11, copy number variation, deletion, duplication, congenital heart disease, ciliopathy, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1458953/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/fd8446aab71741c89c78bdb20faf662b

Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature

Authors: Roberto Palumbi, Emanuela Ponzi, Stefania Micella, Mara Pascali, Roberta Bucci, Mattia Gentile, Lucia Margari, Marta Simone

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: case report, chromosome 16p13.11 microdeletion, copy number variations, neurodevelopment, autism spectrum disorder, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1429185/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/72039c16bda640e2955e1100b0db7606

Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation

Authors: Piero Pavone, Xena Giada Pappalardo, Claudia Parano, Enrico Parano, Antonio Corsello, Martino Ruggieri, Giovanni Cacciaguerra, Raffaele Falsaperla

Source: Global Medical Genetics, Vol 10, Iss 04, Pp 370-375 (2023)

Subject Terms: case report, microtia, 16p13.11 deletion, genotype–phenotype correlation, Genetics, QH426-470, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/2699-9404

Access URL: https://doaj.org/article/53b1775dbe4144ce9c3324ee69179f55

Clinical characterization of patients with schizophrenia and 16p13.11 duplication: A case series

Authors: Hiroki Kimura, Itaru Kushima, Masahiro Banno, Toshiya Inada, Akira Yoshimi, Branko Aleksic, Norio Ozaki

Source: Neuropsychopharmacology Reports, Vol 43, Iss 2, Pp 267-271 (2023)

Subject Terms: 16p13.11 duplication, copy number variation, NDE1, schizophrenia, VPS13B, Therapeutics. Pharmacology, RM1-950, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/2574-173X

Access URL: https://doaj.org/article/bb12e295793347d598a77a1bcedabd7c

Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients

Authors: Hamad, Asma ^{a, 1}, Sherlaw-Sturrock, Charlotte A. ^{a, 1}, Glover, Kate ^a, Salmon, Rachel ^a, Low, Karen ^b, Nair, Ramya ^a, Sansbury, Francis H. ^{b, c}, Rawlins, LettieE. ^d, Carmichael, Jenny ^{e, i}, Horton, Rachael ^f, Wedderburn, Sarah ^g, Edgerley, Katherine ^b, Irving, Rachel ^d, Callaghan, Mary ^d, Mercer, Catherine ^f, McGowan, Ruth ^g, Robert, Leema ^h, Titheradge, Hannah ^{a, 2, ∗}, Naik, Swati ^{a, 2}

Source: In European Journal of Medical Genetics April 2023 66(4)

16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up

Authors: Meiying Cai, Yanting Que, Xuemei Chen, Yuqing Chen, Bin Liang, Hailong Huang, Liangpu Xu, Na Lin

Source: BMC Pregnancy and Childbirth, Vol 22, Iss 1, Pp 1-7 (2022)

Subject Terms: 16p13.11, Nuchal translucency, SNP-array, Phenotypic characteristics, microdeletion/microduplication, Gynecology and obstetrics, RG1-991

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2393

Access URL: https://doaj.org/article/ae451d1ff3e548389c1d9571411c57fd

Evaluation of a girl with 16p13.11 microduplication syndrome according to the International Classification of Functioning, Disability and Health Perspectives

Authors: Fidan Hande, Kerem Günel Mintaze, Haliloğlu Göknur, Ütine Gülen Eda, Kiper Pelin Özlem Şimşek

Source: Sanamed, Vol 17, Iss 3, Pp 189-193 (2022)

Subject Terms: 16p13.11 microduplication syndrome, icf, activity, participation, environmental factors, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.sanamed.rs/OJS/index.php/Sanamed/article/view/561/312; https://doaj.org/toc/1452-662X; https://doaj.org/toc/2217-8171

Access URL: https://doaj.org/article/e72a332c9ba947499965cf5d03252955

16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons

Authors: Elizabeth D. Buttermore, Nickesha C. Anderson, Pin-Fang Chen, Nina R. Makhortova, Kristina H. Kim, Syed M. A. Wafa, Sean Dwyer, John M. Micozzi, Kellen D. Winden, Bo Zhang, Min-Joon Han, Robin J. Kleiman, Catherine A. Brownstein, Mustafa Sahin, Joseph Gonzalez-Heydrich

Source: Frontiers in Psychiatry, Vol 13 (2022)

Subject Terms: iPSC-derived neurons, neuropsychiatric disorders, 16p13.11 deletion, neurite morphology, synapses, in vitro modeling, Psychiatry, RC435-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2022.924956/full; https://doaj.org/toc/1664-0640

Access URL: https://doaj.org/article/bedda704b0ec4e45b715988a86bb44c5

Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches

Authors: Paola Granata, Dario Cocciadiferro, Alessandra Zito, Chiara Pessina, Alessandro Bassani, Fabio Zambonin, Antonio Novelli, Mauro Fasano, Rosario Casalone

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: 16p13.11 microdeletion, copy number variants (CNVs), whole exome sequencing (WES), neurodevelopmental disorders, protein-protein interactions (PPIs), Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.798607/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/1e003e08c96e4b85ae41d59ee7bd334b

Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review

Authors: Li Tan, Bo Bi, Peiwei Zhao, Xiaonan Cai, Chunhui Wan, Jianbo Shao, Xuelian He

Source: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-6 (2017)

Subject Terms: Microcephaly, NDE1, 16p13.11 microdeletion, Agenesis of corpus callosum, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-017-0501-9; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/dda4ac5a10a04cab80b4a8ad5d286ab4

Prenatal diagnosis of microdeletion 16p13.11 combination with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly

Authors: Pi-Lin Sung, Chia-Ming Chang, Chih-Yao Chen, Peng-Hui Wang, Kuan-Chong Chao, Kuo-Chang Wen, Yung-Yung Cheng, Yueh-Chun Li, Chyi-Chyang Lin

Source: Taiwanese Journal of Obstetrics & Gynecology, Vol 51, Iss 2, Pp 260-265 (2012)

Subject Terms: agenesis of corpus callosum, microdeletion 16p13.11, polydactyly, ventriculomegaly, Gynecology and obstetrics, RG1-991

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1028455912000733; https://doaj.org/toc/1028-4559

Access URL: https://doaj.org/article/043d4969ccd94cdc88453718c78f5fc6

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