ZC4H2-Associated Rare Disorders (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "ZC4H2-Associated Rare Disorders" in English language version.

refsWebsite

Global rank English rank

10nih.gov

4^th place

8doi.org

2^nd place

8worldcat.org

5^th place

4semanticscholar.org

11^th place

8^th place

1rarediseases.org

5,181^st place

3,260^th place

doi.org

Wieacker, Peter; Wolff, Gerhard; Wienker, Thomas F.; et al. (1985). "A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia". American Journal of Medical Genetics. 20 (4). Wiley: 597–606. doi:10.1002/ajmg.1320200405. ISSN 0148-7299. PMID 4039531.
Miles, Judith H.; Carpenter, Nancy J. (1991-02-01). "Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31". American Journal of Medical Genetics. 38 (2–3). Wiley: 215–223. doi:10.1002/ajmg.1320380209. ISSN 0148-7299. PMID 2018061.
Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; et al. (2013). "ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity". The American Journal of Human Genetics. 92 (5). Elsevier BV: 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 0002-9297. PMC 3644645. PMID 23623388.
May, Melanie; Hwang, Kyu-Seok; Miles, Judith; et al. (2015-06-08). "ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons". Human Molecular Genetics. 24 (17). Oxford University Press (OUP): 4848–4861. doi:10.1093/hmg/ddv208. ISSN 0964-6906. PMC 4527488. PMID 26056227.
Zanzottera, Cristina; Milani, Donatella; Alfei, Enrico; et al. (2017-03-27). "ZC4H2 deletions can cause severe phenotype in female carriers". American Journal of Medical Genetics Part A. 173 (5). Wiley: 1358–1363. doi:10.1002/ajmg.a.38155. ISSN 1552-4825. PMID 28345801. S2CID 8505583.
Godfrey, Natalie D.; Dowlatshahi, Samandar; Martin, Madelena M.; Rothkopf, Douglas M. (2017-11-17). "Wieacker-Wolff syndrome with associated cleft palate in a female case". American Journal of Medical Genetics Part A. 176 (1). Wiley: 167–170. doi:10.1002/ajmg.a.38527. ISSN 1552-4825. PMID 29150902. S2CID 40056722.
Okubo, Yukimune; Endo, Wakaba; Inui, Takehiko; et al. (2018). "A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation". Brain and Development. 40 (4). Elsevier BV: 334–338. doi:10.1016/j.braindev.2017.11.011. ISSN 0387-7604. PMID 29254829. S2CID 3693309.
Kondo, Daiki; Noguchi, Atsuko; Takahashi, Ikuko; et al. (2018). "A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings". Brain and Development. 40 (9). Elsevier BV: 760–767. doi:10.1016/j.braindev.2018.05.003. ISSN 0387-7604. PMID 29803542. S2CID 44085202.

nih.gov

pubmed.ncbi.nlm.nih.gov

Wieacker, Peter; Wolff, Gerhard; Wienker, Thomas F.; et al. (1985). "A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia". American Journal of Medical Genetics. 20 (4). Wiley: 597–606. doi:10.1002/ajmg.1320200405. ISSN 0148-7299. PMID 4039531.
Miles, Judith H.; Carpenter, Nancy J. (1991-02-01). "Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31". American Journal of Medical Genetics. 38 (2–3). Wiley: 215–223. doi:10.1002/ajmg.1320380209. ISSN 0148-7299. PMID 2018061.
Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; et al. (2013). "ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity". The American Journal of Human Genetics. 92 (5). Elsevier BV: 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 0002-9297. PMC 3644645. PMID 23623388.
May, Melanie; Hwang, Kyu-Seok; Miles, Judith; et al. (2015-06-08). "ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons". Human Molecular Genetics. 24 (17). Oxford University Press (OUP): 4848–4861. doi:10.1093/hmg/ddv208. ISSN 0964-6906. PMC 4527488. PMID 26056227.
Zanzottera, Cristina; Milani, Donatella; Alfei, Enrico; et al. (2017-03-27). "ZC4H2 deletions can cause severe phenotype in female carriers". American Journal of Medical Genetics Part A. 173 (5). Wiley: 1358–1363. doi:10.1002/ajmg.a.38155. ISSN 1552-4825. PMID 28345801. S2CID 8505583.
Godfrey, Natalie D.; Dowlatshahi, Samandar; Martin, Madelena M.; Rothkopf, Douglas M. (2017-11-17). "Wieacker-Wolff syndrome with associated cleft palate in a female case". American Journal of Medical Genetics Part A. 176 (1). Wiley: 167–170. doi:10.1002/ajmg.a.38527. ISSN 1552-4825. PMID 29150902. S2CID 40056722.
Okubo, Yukimune; Endo, Wakaba; Inui, Takehiko; et al. (2018). "A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation". Brain and Development. 40 (4). Elsevier BV: 334–338. doi:10.1016/j.braindev.2017.11.011. ISSN 0387-7604. PMID 29254829. S2CID 3693309.
Kondo, Daiki; Noguchi, Atsuko; Takahashi, Ikuko; et al. (2018). "A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings". Brain and Development. 40 (9). Elsevier BV: 760–767. doi:10.1016/j.braindev.2018.05.003. ISSN 0387-7604. PMID 29803542. S2CID 44085202.

ncbi.nlm.nih.gov

Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; et al. (2013). "ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity". The American Journal of Human Genetics. 92 (5). Elsevier BV: 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 0002-9297. PMC 3644645. PMID 23623388.
May, Melanie; Hwang, Kyu-Seok; Miles, Judith; et al. (2015-06-08). "ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons". Human Molecular Genetics. 24 (17). Oxford University Press (OUP): 4848–4861. doi:10.1093/hmg/ddv208. ISSN 0964-6906. PMC 4527488. PMID 26056227.

rarediseases.org

"ZC4H2-Associated Rare Disorders (ZARD)". National Organization for Rare Disorders (NORD). September 22, 2022. Retrieved February 12, 2023.

semanticscholar.org

api.semanticscholar.org

Zanzottera, Cristina; Milani, Donatella; Alfei, Enrico; et al. (2017-03-27). "ZC4H2 deletions can cause severe phenotype in female carriers". American Journal of Medical Genetics Part A. 173 (5). Wiley: 1358–1363. doi:10.1002/ajmg.a.38155. ISSN 1552-4825. PMID 28345801. S2CID 8505583.
Godfrey, Natalie D.; Dowlatshahi, Samandar; Martin, Madelena M.; Rothkopf, Douglas M. (2017-11-17). "Wieacker-Wolff syndrome with associated cleft palate in a female case". American Journal of Medical Genetics Part A. 176 (1). Wiley: 167–170. doi:10.1002/ajmg.a.38527. ISSN 1552-4825. PMID 29150902. S2CID 40056722.
Okubo, Yukimune; Endo, Wakaba; Inui, Takehiko; et al. (2018). "A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation". Brain and Development. 40 (4). Elsevier BV: 334–338. doi:10.1016/j.braindev.2017.11.011. ISSN 0387-7604. PMID 29254829. S2CID 3693309.
Kondo, Daiki; Noguchi, Atsuko; Takahashi, Ikuko; et al. (2018). "A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings". Brain and Development. 40 (9). Elsevier BV: 760–767. doi:10.1016/j.braindev.2018.05.003. ISSN 0387-7604. PMID 29803542. S2CID 44085202.

worldcat.org

search.worldcat.org

Wieacker, Peter; Wolff, Gerhard; Wienker, Thomas F.; et al. (1985). "A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia". American Journal of Medical Genetics. 20 (4). Wiley: 597–606. doi:10.1002/ajmg.1320200405. ISSN 0148-7299. PMID 4039531.
Miles, Judith H.; Carpenter, Nancy J. (1991-02-01). "Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31". American Journal of Medical Genetics. 38 (2–3). Wiley: 215–223. doi:10.1002/ajmg.1320380209. ISSN 0148-7299. PMID 2018061.
Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; et al. (2013). "ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity". The American Journal of Human Genetics. 92 (5). Elsevier BV: 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 0002-9297. PMC 3644645. PMID 23623388.
May, Melanie; Hwang, Kyu-Seok; Miles, Judith; et al. (2015-06-08). "ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons". Human Molecular Genetics. 24 (17). Oxford University Press (OUP): 4848–4861. doi:10.1093/hmg/ddv208. ISSN 0964-6906. PMC 4527488. PMID 26056227.
Zanzottera, Cristina; Milani, Donatella; Alfei, Enrico; et al. (2017-03-27). "ZC4H2 deletions can cause severe phenotype in female carriers". American Journal of Medical Genetics Part A. 173 (5). Wiley: 1358–1363. doi:10.1002/ajmg.a.38155. ISSN 1552-4825. PMID 28345801. S2CID 8505583.
Godfrey, Natalie D.; Dowlatshahi, Samandar; Martin, Madelena M.; Rothkopf, Douglas M. (2017-11-17). "Wieacker-Wolff syndrome with associated cleft palate in a female case". American Journal of Medical Genetics Part A. 176 (1). Wiley: 167–170. doi:10.1002/ajmg.a.38527. ISSN 1552-4825. PMID 29150902. S2CID 40056722.
Okubo, Yukimune; Endo, Wakaba; Inui, Takehiko; et al. (2018). "A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation". Brain and Development. 40 (4). Elsevier BV: 334–338. doi:10.1016/j.braindev.2017.11.011. ISSN 0387-7604. PMID 29254829. S2CID 3693309.
Kondo, Daiki; Noguchi, Atsuko; Takahashi, Ikuko; et al. (2018). "A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings". Brain and Development. 40 (9). Elsevier BV: 760–767. doi:10.1016/j.braindev.2018.05.003. ISSN 0387-7604. PMID 29803542. S2CID 44085202.