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For: Khetarpal P, Das S, Panigrahi I, Munshi A. Primordial dwarfism: overview of clinical and genetic aspects. Mol Genet Genomics. 2016;291:1-15. [PMID: 26323792 DOI: 10.1007/s00438-015-1110-y] [Cited by in Crossref: 45] [Cited by in F6Publishing: 32] [Article Influence: 6.4] [Reference Citation Analysis]
Number Citing Articles
1 Lesly S, Bandura JL, Calvi BR. Rapid DNA Synthesis During Early Drosophila Embryogenesis Is Sensitive to Maternal Humpty Dumpty Protein Function. Genetics 2017;207:935-47. [PMID: 28942426 DOI: 10.1534/genetics.117.300318] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.2] [Reference Citation Analysis]
2 Zandinejad A, Liang H, Fisher Cosio NA, Revilla-León M. Fabrication of a complete-arch implant-supported fixed interim prosthesis by using a cone beam computed tomography digital scan for a patient with primordial dwarfism: A dental technique. J Prosthet Dent 2021:S0022-3913(21)00160-8. [PMID: 33933270 DOI: 10.1016/j.prosdent.2021.03.012] [Reference Citation Analysis]
3 Donmez YN, Giray D, Epcacan S, Goktas E, Aypar E. Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature. Cardiol Young 2021;:1-4. [PMID: 34387179 DOI: 10.1017/S1047951121003097] [Reference Citation Analysis]
4 Liu R, Ding L, Li M, Cao W, Wang Y, Wang W, Yu Y, Wang Z, Zhu K, Tan X. Characterization of a Rapeseed Anthocyanin-More Mutant with Enhanced Resistance to Sclerotinia sclerotiorum. J Plant Growth Regul 2020;39:703-16. [DOI: 10.1007/s00344-019-10011-4] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
5 Ichisima J, Suzuki NM, Samata B, Awaya T, Takahashi J, Hagiwara M, Nakahata T, Saito MK. Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model. J Hum Genet 2019;64:445-58. [PMID: 30846821 DOI: 10.1038/s10038-019-0574-8] [Reference Citation Analysis]
6 Xu Z, Jie H, Chen B, Gaur U, Wu N, Gao J, Li P, Zhao G, Zeng D, Yang M, Li D. Illumina-based de novo transcriptome sequencing and analysis of Chinese forest musk deer. J Genet 2017;96:1033-40. [DOI: 10.1007/s12041-017-0872-x] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.4] [Reference Citation Analysis]
7 Razmara E, Azimi H, Bitaraf A, Daneshmand MA, Galehdari M, Dokhanchi M, Esmaeilzadeh-Gharehdaghi E, Garshasbi M. Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis. Mol Genet Genomic Med 2020;8:e1118. [PMID: 31944631 DOI: 10.1002/mgg3.1118] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
8 Imbert-Bouteille M, Mau Them FT, Thevenon J, Guignard T, Gatinois V, Riviere JB, Boland A, Meyer V, Deleuze JF, Sanchez E, Apparailly F, Geneviève D, Willems M. LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters. Eur J Med Genet 2019;62:161-6. [PMID: 30006060 DOI: 10.1016/j.ejmg.2018.07.003] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
9 Panigrahi I, Kaur P, Chaudhry C, Shariq M, Naorem DD, Gowtham B, Kaur A, Dayal D. Short Stature Syndromes: Case Series from India. J Pediatr Genet. [DOI: 10.1055/s-0041-1726037] [Reference Citation Analysis]
10 Pillai MR, Pallamparthy S, Gnanavelu S. Secondary Childhood glaucoma - a rare association in Seckel syndrome. Eur J Ophthalmol 2021;:11206721211060949. [PMID: 34812091 DOI: 10.1177/11206721211060949] [Reference Citation Analysis]
11 Kirtay M, Sell J, Marx C, Haselmann H, Ceanga M, Zhou ZW, Rahmati V, Kirkpatrick J, Buder K, Grigaravicius P, Ori A, Geis C, Wang ZQ. ATR regulates neuronal activity by modulating presynaptic firing. Nat Commun 2021;12:4067. [PMID: 34210973 DOI: 10.1038/s41467-021-24217-2] [Reference Citation Analysis]
12 Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Res 2017;27:1323-35. [PMID: 28630177 DOI: 10.1101/gr.219899.116] [Cited by in Crossref: 25] [Cited by in F6Publishing: 21] [Article Influence: 5.0] [Reference Citation Analysis]
13 Menolfi D, Zha S. ATM, DNA-PKcs and ATR: shaping development through the regulation of the DNA damage responses. GENOME INSTAB DIS 2020;1:47-68. [DOI: 10.1007/s42764-019-00003-9] [Cited by in Crossref: 7] [Cited by in F6Publishing: 3] [Article Influence: 2.3] [Reference Citation Analysis]
14 González-Del Angel A, Bisciglia M, Vargas-Cañas S, Fernandez-Valverde F, Kazakova E, Escobar RE, Romero NB, Jardel C, Rucheton B, Stojkovic T, Malfatti E. Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants. Front Neurol 2019;10:1049. [PMID: 31636600 DOI: 10.3389/fneur.2019.01049] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
15 Takumi K, Kitagawa D. Experimental and Natural Induction of de novo Centriole Formation. Front Cell Dev Biol 2022;10:861864. [PMID: 35445021 DOI: 10.3389/fcell.2022.861864] [Reference Citation Analysis]
16 Kalogeropoulou A, Lygerou Z, Taraviras S. Cortical Development and Brain Malformations: Insights From the Differential Regulation of Early Events of DNA Replication. Front Cell Dev Biol 2019;7:29. [PMID: 30915332 DOI: 10.3389/fcell.2019.00029] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
17 Chen X, Gao Y, Yang L, Wu B, Dong X, Liu B, Lu Y, Zhou W, Wang H. Speech and language delay in a patient with WDR4 mutations. European Journal of Medical Genetics 2018;61:468-72. [DOI: 10.1016/j.ejmg.2018.03.007] [Cited by in Crossref: 11] [Cited by in F6Publishing: 7] [Article Influence: 2.8] [Reference Citation Analysis]
18 Andrade AC, Jee YH, Nilsson O. New Genetic Diagnoses of Short Stature Provide Insights into Local Regulation of Childhood Growth
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19 Jee YH, Andrade AC, Baron J, Nilsson O. Genetics of Short Stature. Endocrinol Metab Clin North Am 2017;46:259-81. [PMID: 28476223 DOI: 10.1016/j.ecl.2017.01.001] [Cited by in Crossref: 16] [Cited by in F6Publishing: 12] [Article Influence: 3.2] [Reference Citation Analysis]
20 Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z, Lupski JR, Posey JE, Chen S, Gong C, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study. Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature. J Genet Genomics 2021;48:396-402. [PMID: 34006472 DOI: 10.1016/j.jgg.2021.02.008] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
21 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: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
22 Xu D, Sun C, Zhou Z, Wu B, Yang L, Chang Z, Zhang M, Xi L, Cheng R, Ni J, Luo F. Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children. BMC Med Genet 2018;19:79. [PMID: 29769040 DOI: 10.1186/s12881-018-0591-z] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
23 Charlier CF, Martins RAP. Protective Mechanisms Against DNA Replication Stress in the Nervous System. Genes (Basel) 2020;11:E730. [PMID: 32630049 DOI: 10.3390/genes11070730] [Cited by in Crossref: 2] [Article Influence: 1.0] [Reference Citation Analysis]
24 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]
25 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]
26 Khojah O, Alamoudi S, Aldawsari N, Babgi M, Lary A. Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review. Childs Nerv Syst 2021. [PMID: 34345934 DOI: 10.1007/s00381-021-05284-8] [Reference Citation Analysis]
27 Ravindran E, Gutierrez de Velazco C, Ghazanfar A, Kraemer N, Zaqout S, Waheed A, Hanif M, Mughal S, Prigione A, Li N, Fang X, Hu H, Kaindl AM. Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability. J Med Genet 2021:jmedgenet-2020-107518. [PMID: 34059554 DOI: 10.1136/jmedgenet-2020-107518] [Reference Citation Analysis]
28 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]
29 Qiu S, Jin Y, Feng S, Zhou T, Li Y. Dwarfism computer-aided diagnosis algorithm based on multimodal pyradiomics. Information Fusion 2022;80:137-45. [DOI: 10.1016/j.inffus.2021.11.012] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
30 Rotelli MD, Bolling AM, Killion AW, Weinberg AJ, Dixon MJ, Calvi BR. An RNAi Screen for Genes Required for Growth of Drosophila Wing Tissue. G3 (Bethesda) 2019;9:3087-100. [PMID: 31387856 DOI: 10.1534/g3.119.400581] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
31 Lin T, Du J, Zheng X, Zhou P, Li P, Lu X. Comparative transcriptome analysis of MeJA-responsive AP2/ERF transcription factors involved in notoginsenosides biosynthesis. 3 Biotech 2020;10:290. [PMID: 32550109 DOI: 10.1007/s13205-020-02246-w] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
32 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]
33 Yang LL, Liang SS. Study on pathogenic genes of dwarfism disease by next-generation sequencing. World J Clin Cases 2021; 9(7): 1600-1609 [PMID: 33728303 DOI: 10.12998/wjcc.v9.i7.1600] [Reference Citation Analysis]
34 Phan TP, Holland AJ. Time is of the essence: the molecular mechanisms of primary microcephaly. Genes Dev 2021;35:1551-78. [PMID: 34862179 DOI: 10.1101/gad.348866.121] [Reference Citation Analysis]
35 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]
36 García-de Teresa B, Hernández-Gómez M, Frías S. DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation. Biomed Res Int 2017;2017:8193892. [PMID: 29238724 DOI: 10.1155/2017/8193892] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 1.8] [Reference Citation Analysis]
37 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]
38 Finken MJJ, van der Steen M, Smeets CCJ, Walenkamp MJE, de Bruin C, Hokken-Koelega ACS, Wit JM. Children Born Small for Gestational Age: Differential Diagnosis, Molecular Genetic Evaluation, and Implications. Endocr Rev 2018;39:851-94. [PMID: 29982551 DOI: 10.1210/er.2018-00083] [Cited by in Crossref: 35] [Cited by in F6Publishing: 35] [Article Influence: 11.7] [Reference Citation Analysis]