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For: Bober MB, Jackson AP. Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. Curr Osteoporos Rep 2017;15:61-9. [PMID: 28409412 DOI: 10.1007/s11914-017-0348-1] [Cited by in Crossref: 32] [Cited by in F6Publishing: 26] [Article Influence: 8.0] [Reference Citation Analysis]
Number Citing Articles
1 Monteiro A, Cortez GM, Granja MF, Agnoletto GJ, Kranich J, Padilha MVR, Aldana P, Hanel R. Intracranial aneurysms in microcephalic primordial dwarfism: a systematic review. J Neurointerv Surg 2021;13:171-6. [PMID: 32522788 DOI: 10.1136/neurintsurg-2020-016069] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
2 Lorenzo-Betancor O, Blackburn PR, Edwards E, Vázquez-do-Campo R, Klee EW, Labbé C, Hodges K, Glover P, Sigafoos AN, Soto AI, Walton RL, Doxsey S, Bober MB, Jennings S, Clark KJ, Asmann Y, Miller D, Freeman WD, Meschia J, Ross OA. PCNT point mutations and familial intracranial aneurysms. Neurology 2018;91:e2170-81. [PMID: 30413633 DOI: 10.1212/WNL.0000000000006614] [Cited by in Crossref: 10] [Cited by in F6Publishing: 7] [Article Influence: 2.5] [Reference Citation Analysis]
3 Marthiens V, Basto R. Centrosomes: The good and the bad for brain development. Biol Cell 2020;112:153-72. [PMID: 32170757 DOI: 10.1111/boc.201900090] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 4.0] [Reference Citation Analysis]
4 Neuheuser L, Meyer R, Begemann M, Elbracht M, Eggermann T. Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome. Molecular and Cellular Probes 2019;44:1-7. [DOI: 10.1016/j.mcp.2018.12.007] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 3.0] [Reference Citation Analysis]
5 Waich S, Janecke AR, Parson W, Greber-Platzer S, Müller T, Huber LA, Valovka T, Vodopiutz J. Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria. Clin Genet 2020;98:282-7. [PMID: 32557621 DOI: 10.1111/cge.13797] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
6 Ding W, Wu Q, Sun L, Pan NC, Wang X. Cenpj Regulates Cilia Disassembly and Neurogenesis in the Developing Mouse Cortex. J Neurosci 2019;39:1994-2010. [PMID: 30626697 DOI: 10.1523/JNEUROSCI.1849-18.2018] [Cited by in Crossref: 18] [Cited by in F6Publishing: 10] [Article Influence: 6.0] [Reference Citation Analysis]
7 Busaleh F, Alnofaily H, Al Ghadeer HA, Albahrani FA, Alatiyyah HA, Alshaikh SB, Alhamrani AM, Hassan W, Alatiya J, Alnaqaa J. Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl. Cureus 2021;13:e19829. [PMID: 34963845 DOI: 10.7759/cureus.19829] [Reference Citation Analysis]
8 Nam SM, Jang D, Wang KC, Kim SK, Phi JH, Lee JY, Cho WS, Kim JE, Kang HS. Characteristics and Treatment Outcome of Intracranial Aneurysms in Children and Adolescents. J Korean Neurosurg Soc 2019;62:551-60. [PMID: 31484231 DOI: 10.3340/jkns.2019.0140] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
9 Mitri F, Enk A, Bersano A, Kraemer M. Livedo racemosa in neurological diseases: an update on the differential diagnoses. Eur J Neurol 2020;27:1832-43. [DOI: 10.1111/ene.14390] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
10 Dehghan Tezerjani M, Vahidi Mehrjardi MY, Hozhabri H, Rahmanian M. A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II). Front Pediatr 2020;8:340. [PMID: 32671003 DOI: 10.3389/fped.2020.00340] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
11 Thomas S, Boutaud L, Reilly ML, Benmerah A. Cilia in hereditary cerebral anomalies. Biol Cell 2019;111:217-31. [DOI: 10.1111/boc.201900012] [Cited by in Crossref: 15] [Cited by in F6Publishing: 14] [Article Influence: 5.0] [Reference Citation Analysis]
12 Chung H, Kim SY, Kang J, Phi JH, Kim WH, Yang SW, Kwon HW, Lee SY, Kim GB, Bae EJ, Song MK, Chae JH. Siblings With Familial Dwarfism Presenting With Acute Myocardial Infarction at Adolescence. JACC Case Rep 2021;3:795-800. [PMID: 34317628 DOI: 10.1016/j.jaccas.2021.03.015] [Reference Citation Analysis]
13 Duker AL, Kinderman D, Jordan C, Niiler T, Baker-Smith CM, Thompson L, Parry DA, Carroll RS, Bober MB. Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease. Orphanet J Rare Dis 2021;16:231. [PMID: 34016138 DOI: 10.1186/s13023-021-01852-y] [Reference Citation Analysis]
14 Nguyen TH, Nguyen NL, Vu CD, Ngoc CTB, Nguyen NK, Nguyen HH. Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II. Genes Genomics 2021;43:115-21. [PMID: 33460028 DOI: 10.1007/s13258-020-01032-5] [Reference Citation Analysis]
15 Hettiarachchi D, Subasinghe SMV, Anandagoda GG, Panchal H, Lai PS, Dissanayake VHW. Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys. BMC Med Genomics 2022;15. [DOI: 10.1186/s12920-022-01226-8] [Reference Citation Analysis]
16 Ma Y, Xu Z, Zhao J, Shen H. Novel compound heterozygous mutations of PCNT gene in MOPD type II with central precocious puberty. Gynecol Endocrinol 2021;37:190-2. [PMID: 33016782 DOI: 10.1080/09513590.2020.1827382] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
17 Segovia-ortí R, Espinosa de los Monteros Aliaga Cano N, Lumbreras J, Sotto-esteban DD, Rodrigo MD. Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report. J Pediatr Genet. [DOI: 10.1055/s-0040-1716399] [Reference Citation Analysis]
18 Abdel-Salam GMH, Sayed ISM, Afifi HH, Abdel-Ghafar SF, Abouzaid MR, Ismail SI, Aglan MS, Issa MY, El-Bassyouni HT, El-Kamah G, Effat LK, Eid M, Zaki MS, Temtamy SA, Abdel-Hamid MS. Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation. Am J Med Genet A 2020;182:1407-20. [PMID: 32267100 DOI: 10.1002/ajmg.a.61585] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
19 Pinti E, Nemeth K, Staub K, Lengyel A, Fekete G, Haltrich I. Diagnostic difficulties and possibilities of NF1-like syndromes in childhood. BMC Pediatr 2021;21:331. [PMID: 34325699 DOI: 10.1186/s12887-021-02791-0] [Reference Citation Analysis]
20 Alrajhi H, Alallah J, Shawli A, Alghamdi K, Hakami F. Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene. BMJ Case Rep 2019;12:e224197. [PMID: 31151966 DOI: 10.1136/bcr-2018-224197] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
21 Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH; Undiagnosed Diseases Network., Scottish Genome Partnership. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet 2018;103:553-67. [PMID: 30290151 DOI: 10.1016/j.ajhg.2018.09.003] [Cited by in Crossref: 43] [Cited by in F6Publishing: 34] [Article Influence: 10.8] [Reference Citation Analysis]
22 Lorentz KO, Branca NM, Lemmers SAM. Majewski/Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII) with generalised microdontia in the 4th millennium BCE Eastern Mediterranean. Int J Paleopathol 2021;33:158-69. [PMID: 33957552 DOI: 10.1016/j.ijpp.2021.04.001] [Reference Citation Analysis]
23 Liu S, Trupiano MX, Simon J, Guo J, Anton ES. The essential role of primary cilia in cerebral cortical development and disorders. Curr Top Dev Biol 2021;142:99-146. [PMID: 33706927 DOI: 10.1016/bs.ctdb.2020.11.003] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
24 Roque H, Saurya S, Pratt MB, Johnson E, Raff JW. Drosophila PLP assembles pericentriolar clouds that promote centriole stability, cohesion and MT nucleation.PLoS Genet. 2018;14:e1007198. [PMID: 29425198 DOI: 10.1371/journal.pgen.1007198] [Cited by in Crossref: 13] [Cited by in F6Publishing: 15] [Article Influence: 3.3] [Reference Citation Analysis]
25 Matos-Rodrigues GE, Tan PB, Rocha-Martins M, Charlier CF, Gomes AL, Cabral-Miranda F, Grigaravicius P, Hofmann TG, Frappart PO, Martins RAP. Progenitor death drives retinal dysplasia and neuronal degeneration in a mouse model of ATRIP-Seckel syndrome. Dis Model Mech 2020;13:dmm045807. [PMID: 32994318 DOI: 10.1242/dmm.045807] [Cited by in Crossref: 2] [Article Influence: 1.0] [Reference Citation Analysis]
26 Stinson JL, Brault JA, Delk PR, Graham BH, Karmazyn B, Hall B, Weaver DD. An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology. Am J Med Genet A 2020;182:1562-71. [PMID: 32426895 DOI: 10.1002/ajmg.a.61619] [Reference Citation Analysis]
27 Chen WJ, Huang FC, Shih MH. Ocular characteristics in a variant microcephalic primordial dwarfism type II. BMC Pediatr 2019;19:329. [PMID: 31510961 DOI: 10.1186/s12887-019-1685-2] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
28 Ghosh S, Garg M, Gupta S, Choudhary M, Chandra M. Microcephalic osteodyplastic primordial dwarfism type II: case report with unique oral findings and a new mutation in the pericentrin gene. Oral Surg Oral Med Oral Pathol Oral Radiol 2020;129:e204-11. [PMID: 31606423 DOI: 10.1016/j.oooo.2019.08.019] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
29 Schnabel F, Kornak U, Wollnik B. Premature aging disorders: A clinical and genetic compendium. Clin Genet 2021;99:3-28. [PMID: 32860237 DOI: 10.1111/cge.13837] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]