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For: Domené S, Roessler E, El-Jaick KB, Snir M, Brown JL, Vélez JI, Bale S, Lacbawan F, Muenke M, Feldman B. Mutations in the human SIX3 gene in holoprosencephaly are loss of function. Hum Mol Genet 2008;17:3919-28. [PMID: 18791198 PMCID: PMC2733808 DOI: 10.1093/hmg/ddn294] [Citation(s) in RCA: 49] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/29/2008] [Accepted: 09/09/2008] [Indexed: 01/12/2023]  Open
Number Cited by Other Article(s)
1
Mori M, Takeshita S, Nakamura N, Mizuno Y, Tomita A, Aoyama M, Kakita H, Yamada Y. Efficacy of tolvaptan in an infant with syndrome of inappropriate antidiuretic hormone secretion associated with holoprosencephaly: A case report. World J Clin Cases 2023;11:6262-6267. [PMID: 37731562 PMCID: PMC10507562 DOI: 10.12998/wjcc.v11.i26.6262] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/06/2023] [Revised: 07/31/2023] [Accepted: 08/15/2023] [Indexed: 09/08/2023]  Open
2
Wong A, Zhou A, Cao X, Mahaganapathy V, Azaro M, Gwin C, Wilson S, Buyske S, Bartlett CW, Flax JF, Brzustowicz LM, Xing J. MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders. Genes (Basel) 2022;13:1329. [PMID: 35893067 PMCID: PMC9329941 DOI: 10.3390/genes13081329] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/03/2022] [Revised: 07/19/2022] [Accepted: 07/22/2022] [Indexed: 12/13/2022]  Open
3
Tian C, Duan L, Fu C, He J, Dai J, Zhu G. Study on the Correlation Between Iris Characteristics and Schizophrenia. Neuropsychiatr Dis Treat 2022;18:811-820. [PMID: 35431547 PMCID: PMC9005354 DOI: 10.2147/ndt.s361614] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/15/2022] [Accepted: 04/01/2022] [Indexed: 11/23/2022]  Open
4
de Castro VF, Mattos D, de Carvalho FM, Cavalcanti DP, Duenas-Roque MM, Llerena J, Cosentino VR, Honjo RS, Leite JCL, Sanseverino MT, de Souza MPA, Bernardi P, Bolognese AM, Santana da Silva LC, Barbero P, Correia PS, Bueno LSM, Savastano CP, Orioli IM. New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly. Mol Syndromol 2021;12:219-233. [PMID: 34421500 DOI: 10.1159/000515044] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/03/2020] [Accepted: 02/04/2021] [Indexed: 11/19/2022]  Open
5
Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO, Camper SA. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency. Am J Hum Genet 2021;108:1526-1539. [PMID: 34270938 DOI: 10.1016/j.ajhg.2021.06.013] [Citation(s) in RCA: 19] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/08/2021] [Accepted: 06/18/2021] [Indexed: 12/13/2022]  Open
6
Diaz C, Puelles L. Developmental Genes and Malformations in the Hypothalamus. Front Neuroanat 2020;14:607111. [PMID: 33324176 PMCID: PMC7726113 DOI: 10.3389/fnana.2020.607111] [Citation(s) in RCA: 21] [Impact Index Per Article: 4.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/16/2020] [Accepted: 10/26/2020] [Indexed: 12/15/2022]  Open
7
Nagai-Tanima M, Hong S, Hu P, Carrington B, Sood R, Roessler E, Muenke M. Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes. Hum Mutat 2020;41:2105-2118. [PMID: 32906187 DOI: 10.1002/humu.24103] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/04/2020] [Revised: 08/14/2020] [Accepted: 08/28/2020] [Indexed: 12/19/2022]
8
Turcu DC, Lillehaug JR, Seo HC. SIX3 and SIX6 interact with GEMININ via C-terminal regions. Biochem Biophys Rep 2019;20:100695. [PMID: 31844685 PMCID: PMC6895700 DOI: 10.1016/j.bbrep.2019.100695] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/04/2019] [Revised: 10/09/2019] [Accepted: 10/10/2019] [Indexed: 01/13/2023]  Open
9
Tatsi C, Xekouki P, Nioti O, Bachrach B, Belyavskaya E, Lyssikatos C, Stratakis CA. A novel mutation in the glucocorticoid receptor gene as a cause of severe glucocorticoid resistance complicated by hypertensive encephalopathy. J Hypertens 2019;37:1475-1481. [PMID: 31145715 PMCID: PMC10913058 DOI: 10.1097/hjh.0000000000002048] [Citation(s) in RCA: 13] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022]
10
Posbergh CJ, Thonney ML, Huson HJ. Genomic Approaches Identify Novel Gene Associations with Out of Season Lambing in Sheep. J Hered 2019;110:577-586. [DOI: 10.1093/jhered/esz014] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/09/2019] [Accepted: 02/27/2019] [Indexed: 12/20/2022]  Open
11
Walter Costa MB, Höner zu Siederdissen C, Dunjić M, Stadler PF, Nowick K. SSS-test: a novel test for detecting positive selection on RNA secondary structure. BMC Bioinformatics 2019;20:151. [PMID: 30898084 PMCID: PMC6429701 DOI: 10.1186/s12859-019-2711-y] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/19/2018] [Accepted: 03/03/2019] [Indexed: 12/23/2022]  Open
12
Roessler E, Hu P, Marino J, Hong S, Hart R, Berger S, Martinez A, Abe Y, Kruszka P, Thomas JW, Mullikin JC, Wang Y, Wong WSW, Niederhuber JE, Solomon BD, Richieri-Costa A, Ribeiro-Bicudo LA, Muenke M. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling. Hum Mutat 2018;39:1416-1427. [PMID: 29992659 DOI: 10.1002/humu.23590] [Citation(s) in RCA: 18] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/09/2018] [Revised: 06/05/2018] [Accepted: 07/05/2018] [Indexed: 01/01/2023]
13
Roessler E, Hu P, Muenke M. Holoprosencephaly in the genomics era. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS 2018;178:165-174. [PMID: 29770992 DOI: 10.1002/ajmg.c.31615] [Citation(s) in RCA: 31] [Impact Index Per Article: 4.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 03/16/2018] [Revised: 04/06/2018] [Accepted: 04/11/2018] [Indexed: 01/08/2023]
14
Stokes B, Berger SI, Hall BA, Weiss K, Hadley DW, Murdock DR, Ramanathan S, Clark RD, Roessler E, Kruszka P, Muenke M. SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly. Congenit Anom (Kyoto) 2018;58:29-32. [PMID: 28670735 PMCID: PMC5750110 DOI: 10.1111/cga.12234] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/27/2017] [Revised: 05/09/2017] [Accepted: 06/25/2017] [Indexed: 12/27/2022]
15
Ochi H, Kawaguchi A, Tanouchi M, Suzuki N, Kumada T, Iwata Y, Ogino H. Co-accumulation of cis-regulatory and coding mutations during the pseudogenization of the Xenopus laevis homoeologs six6.L and six6.S. Dev Biol 2017;427:84-92. [PMID: 28501477 DOI: 10.1016/j.ydbio.2017.05.004] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/30/2016] [Revised: 04/29/2017] [Accepted: 05/08/2017] [Indexed: 01/01/2023]
16
Paulussen ADC, Steyls A, Vanoevelen J, van Tienen FHJ, Krapels IPC, Claes GRF, Chocron S, Velter C, Tan-Sindhunata GM, Lundin C, Valenzuela I, Nagy B, Bache I, Maroun LL, Avela K, Brunner HG, Smeets HJM, Bakkers J, van den Wijngaard A. Rare novel variants in the ZIC3 gene cause X-linked heterotaxy. Eur J Hum Genet 2016;24:1783-1791. [PMID: 27406248 PMCID: PMC5117940 DOI: 10.1038/ejhg.2016.91] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/27/2015] [Revised: 04/25/2016] [Accepted: 05/20/2016] [Indexed: 02/08/2023]  Open
17
Gupta S, Sen J. Roof plate mediated morphogenesis of the forebrain: New players join the game. Dev Biol 2016;413:145-52. [DOI: 10.1016/j.ydbio.2016.03.019] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/02/2015] [Revised: 02/06/2016] [Accepted: 03/15/2016] [Indexed: 10/22/2022]
18
Beccari L, Marco-Ferreres R, Tabanera N, Manfredi A, Souren M, Wittbrodt B, Conte I, Wittbrodt J, Bovolenta P. A trans-Regulatory Code for the Forebrain Expression of Six3.2 in the Medaka Fish. J Biol Chem 2015;290:26927-26942. [PMID: 26378230 PMCID: PMC4646366 DOI: 10.1074/jbc.m115.681254] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/28/2015] [Revised: 09/11/2015] [Indexed: 12/16/2022]  Open
19
Poelmans S, Kawamoto T, Cristofoli F, Politis C, Vermeesch J, Bailleul-Forestier I, Hens G, Devriendt K, Verdonck A, Carels C. Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome. Am J Med Genet A 2015;167A:2451-8. [PMID: 26080100 DOI: 10.1002/ajmg.a.37207] [Citation(s) in RCA: 18] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/06/2015] [Accepted: 06/03/2015] [Indexed: 11/09/2022]
20
Santos-Ledo A, Cavodeassi F, Carreño H, Aijón J, Arévalo R. Ethanol alters gene expression and cell organization during optic vesicle evagination. Neuroscience 2013;250:493-506. [PMID: 23892006 PMCID: PMC3988994 DOI: 10.1016/j.neuroscience.2013.07.036] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/02/2012] [Revised: 06/25/2013] [Accepted: 07/10/2013] [Indexed: 01/12/2023]
21
Carlin D, Sepich D, Grover VK, Cooper MK, Solnica-Krezel L, Inbal A. Six3 cooperates with Hedgehog signaling to specify ventral telencephalon by promoting early expression of Foxg1a and repressing Wnt signaling. Development 2012;139:2614-24. [PMID: 22736245 PMCID: PMC3383232 DOI: 10.1242/dev.076018] [Citation(s) in RCA: 30] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 05/01/2012] [Indexed: 01/18/2023]
22
Roessler E, Vélez JI, Zhou N, Muenke M. Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions. Mol Genet Metab 2012;105:658-64. [PMID: 22310223 PMCID: PMC3309119 DOI: 10.1016/j.ymgme.2012.01.005] [Citation(s) in RCA: 42] [Impact Index Per Article: 3.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/06/2011] [Revised: 01/05/2012] [Accepted: 01/05/2012] [Indexed: 11/29/2022]
23
Gestri G, Link BA, Neuhauss SCF. The visual system of zebrafish and its use to model human ocular diseases. Dev Neurobiol 2012;72:302-27. [PMID: 21595048 PMCID: PMC3202066 DOI: 10.1002/dneu.20919] [Citation(s) in RCA: 128] [Impact Index Per Article: 9.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/23/2022]
24
Morris AC. The genetics of ocular disorders: insights from the zebrafish. ACTA ACUST UNITED AC 2012;93:215-28. [PMID: 21932431 DOI: 10.1002/bdrc.20211] [Citation(s) in RCA: 25] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/05/2022]
25
Basel-Vanagaite L, Sprecher E, Gat A, Merlob P, Albin-Kaplanski A, Konen O, Solomon BD, Muenke M, Grzeschik KH, Sirota L. New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies. Pediatr Dermatol 2012;29:89-95. [PMID: 21995818 PMCID: PMC4131925 DOI: 10.1111/j.1525-1470.2011.01403.x] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/15/2023]
26
Pineda-Alvarez DE, Solomon BD, Roessler E, Balog JZ, Hadley DW, Zein WM, Hadsall CK, Brooks BP, Muenke M. A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. Am J Med Genet A 2011;155A:2713-20. [PMID: 21976454 PMCID: PMC3200498 DOI: 10.1002/ajmg.a.34261] [Citation(s) in RCA: 30] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/17/2011] [Accepted: 07/17/2011] [Indexed: 01/15/2023]
27
Bosoi CM, Capra V, Allache R, Trinh VQH, De Marco P, Merello E, Drapeau P, Bassuk AG, Kibar Z. Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects. Hum Mutat 2011;32:1371-5. [PMID: 21901791 DOI: 10.1002/humu.21589] [Citation(s) in RCA: 63] [Impact Index Per Article: 4.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/15/2011] [Accepted: 07/23/2011] [Indexed: 01/08/2023]
28
Pineda-Alvarez DE, Roessler E, Hu P, Srivastava K, Solomon BD, Siple CE, Fan CM, Muenke M. Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH. Hum Genet 2011;131:301-10. [PMID: 21842183 DOI: 10.1007/s00439-011-1078-6] [Citation(s) in RCA: 43] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/28/2011] [Accepted: 08/02/2011] [Indexed: 10/17/2022]
29
Raam MS, Solomon BD, Muenke M. Holoprosencephaly: a guide to diagnosis and clinical management. Indian Pediatr 2011;48:457-66. [PMID: 21743112 PMCID: PMC4131946 DOI: 10.1007/s13312-011-0078-x] [Citation(s) in RCA: 20] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/18/2022]
30
Wannasilp N, Solomon BD, Warren-Mora N, Clegg NJ, Delgado MR, Lacbawan F, Hu P, Winder TL, Roessler E, Muenke M. Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2. Am J Med Genet A 2011;155A:860-4. [PMID: 21416594 DOI: 10.1002/ajmg.a.33903] [Citation(s) in RCA: 13] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/29/2010] [Accepted: 12/23/2010] [Indexed: 02/03/2023]
31
Zhang W, Hong M, Bae GU, Kang JS, Krauss RS. Boc modifies the holoprosencephaly spectrum of Cdo mutant mice. Dis Model Mech 2010;4:368-80. [PMID: 21183473 PMCID: PMC3097458 DOI: 10.1242/dmm.005744] [Citation(s) in RCA: 56] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/12/2023]  Open
32
Kauvar EF, Muenke M. Holoprosencephaly: recommendations for diagnosis and management. Curr Opin Pediatr 2010;22:687-95. [PMID: 20859208 PMCID: PMC4131980 DOI: 10.1097/mop.0b013e32833f56d5] [Citation(s) in RCA: 39] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
33
Cohen MM. Hedgehog signaling update. Am J Med Genet A 2010;152A:1875-914. [PMID: 20635334 DOI: 10.1002/ajmg.a.32909] [Citation(s) in RCA: 86] [Impact Index Per Article: 5.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/21/2022]
34
Gongal PA, French CR, Waskiewicz AJ. Aberrant forebrain signaling during early development underlies the generation of holoprosencephaly and coloboma. Biochim Biophys Acta Mol Basis Dis 2010;1812:390-401. [PMID: 20850526 DOI: 10.1016/j.bbadis.2010.09.005] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/01/2009] [Accepted: 09/08/2010] [Indexed: 01/10/2023]
35
Paulussen ADC, Schrander-Stumpel CT, Tserpelis DCJ, Spee MKM, Stegmann APA, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon MEH, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AMA, Tan-Sindhunata GMB, van Maarle MC, Arens YHJM, Smeets EEJGL, de Die-Smulders CE, Engelen JJM, Smeets HJ, Herbergs J. The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. Eur J Hum Genet 2010;18:999-1005. [PMID: 20531442 PMCID: PMC2987413 DOI: 10.1038/ejhg.2010.70] [Citation(s) in RCA: 32] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/12/2010] [Revised: 03/23/2010] [Accepted: 03/25/2010] [Indexed: 11/09/2022]  Open
36
Chao CH, Wang HD, Yuh CH. Complexity of cis-regulatory organization of six3a during forebrain and eye development in zebrafish. BMC DEVELOPMENTAL BIOLOGY 2010;10:35. [PMID: 20346166 PMCID: PMC2858731 DOI: 10.1186/1471-213x-10-35] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 11/13/2009] [Accepted: 03/26/2010] [Indexed: 11/10/2022]
37
Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg C, David V, Odent S, Roessler E, Muenke M. Analysis of genotype-phenotype correlations in human holoprosencephaly. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS 2010;154C:133-41. [PMID: 20104608 DOI: 10.1002/ajmg.c.30240] [Citation(s) in RCA: 111] [Impact Index Per Article: 7.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/18/2023]
38
Roessler E, Muenke M. The molecular genetics of holoprosencephaly. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS 2010;154C:52-61. [PMID: 20104595 DOI: 10.1002/ajmg.c.30236] [Citation(s) in RCA: 172] [Impact Index Per Article: 11.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
39
Hehr U, Pineda-Alvarez DE, Uyanik G, Hu P, Zhou N, Hehr A, Schell-Apacik C, Altus C, Daumer-Haas C, Meiner A, Steuernagel P, Roessler E, Winkler J, Muenke M. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Hum Genet 2010;127:555-61. [PMID: 20157829 PMCID: PMC4101187 DOI: 10.1007/s00439-010-0797-4] [Citation(s) in RCA: 37] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/14/2009] [Accepted: 01/28/2010] [Indexed: 11/28/2022]
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Pineda-Alvarez DE, Dubourg C, David V, Roessler E, Muenke M. Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS 2010;154C:93-101. [PMID: 20104604 PMCID: PMC2815008 DOI: 10.1002/ajmg.c.30253] [Citation(s) in RCA: 46] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/10/2022]
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Roessler E, El-Jaick KB, Dubourg C, Vélez JI, Solomon BD, Pineda-Álvarez DE, Lacbawan F, Zhou N, Ouspenskaia M, Paulussen A, Smeets HJ, Hehr U, Bendavid C, Bale S, Odent S, David V, Muenke M. The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. Hum Mutat 2009;30:E921-35. [PMID: 19603532 PMCID: PMC2772877 DOI: 10.1002/humu.21090] [Citation(s) in RCA: 69] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
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Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RCM, van den Boogaard MJH, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CTRM, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet 2009;46:389-98. [PMID: 19346217 PMCID: PMC3510661 DOI: 10.1136/jmg.2008.063818] [Citation(s) in RCA: 65] [Impact Index Per Article: 4.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022]
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Geng X, Oliver G. Pathogenesis of holoprosencephaly. J Clin Invest 2009;119:1403-13. [PMID: 19487816 DOI: 10.1172/jci38937] [Citation(s) in RCA: 68] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/23/2023]  Open
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Solomon BD, Lacbawan F, Jain M, Domené S, Roessler E, Moore C, Dobyns WB, Muenke M. A novel SIX3 mutation segregates with holoprosencephaly in a large family. Am J Med Genet A 2009;149A:919-25. [PMID: 19353631 PMCID: PMC2737713 DOI: 10.1002/ajmg.a.32813] [Citation(s) in RCA: 31] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/04/2023]
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