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322 Possible Causes for 24 BP, ARX,, DEL,, NT441

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  • Central Nervous System Cyst

    We describe a 72 year old man with X-linked mental retardation due to a 24 bp duplication mutation in exon 2 of the ARX gene.[jnnp.bmj.com] Estratto L’incidenza delle malformazioni del SNC è del 5,3 per 1.000 neonati; questa percentuale aumenta includendo i nati morti e gli aborti.[link.springer.com] ., and Fuster, B. (1952) El tratamiento quirurgico del quiste hidatico Cerebral. Arch. Pediat. Urug., 10:631. 2.[jpma.org.pk] ARX gene brain cysts X-linked mental retardation Statistics from Altmetric.com ARX gene brain cysts X-linked mental retardation Congenital brain anomalies are not infrequently[jnnp.bmj.com]

    Missing: NT441
  • Polymicrogyria

    17,608) 99.99% 11-50 bps 99.07% (957/966) 99.99% Copy number variants (exon level dels/dups) Clinical samples (small CNVs, n 52) 1 exon level deletion 92.3% (24/26) NA 2[blueprintgenetics.com] To our knowledge, ARX mutation causing PMG and PVNH is unique, but the spasms and ACC are common in ARX mutations.[ncbi.nlm.nih.gov] del, p.Lys18_Glu243) was found in five unrelated families (50%), suggesting a founder mutation in our population.[ncbi.nlm.nih.gov] ) Comprehensive update posted live 6 August 2007 (me) Comprehensive update posted live 18 April 2005 (me) Overview posted live 24 August 2004 (bc) Original submission[ncbi.nlm.nih.gov]

    Missing: NT441
  • Angelman Syndrome

    These findings are suggestive of maternal germ-line mosaicism of del(15)(q11q13).[ncbi.nlm.nih.gov] The ATG codon bridging exons 7 and 8 is cDNA bp 587–589 and is codon 1 for amino acid numbering.[hmg.oxfordjournals.org] Our Rett/Angelman Sequencing Panel includes sequence analysis of the following 21 genes: ARX, ATRX, CDKL5, CNTNAP2, DYRK1A, EHMT1, FOLR1, FOXG1, MBD5, MECP2, MEF2C, NRXN1,[dnatesting.uchicago.edu] […] mL) Buccal Swabs Billing CPT Codes: 81403x1, 81189x1, 81404x4, 81405x2, 81406x2, 81407x1 Forms and Documents Test Details Genes: ADSL, ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX[genedx.com]

    Missing: NT441
  • Partington Syndrome

    Det er en del av utvelgelsesprosessen som stammer fra den tiden menneskene begynte å befolke jorden, sier han.[msn.com] Moreover, in a study of 46 males with the 428–451dup (24 bp), it was shown that the degree of MR ranged from mild to severe and infantile spasms occurred in 12.5% and other[latunisiemedicale.com] KEYWORDS: ARX; DNA sequencing; Duplication; Mosaicism; PCR fragment length analysis; Partington syndrome[ncbi.nlm.nih.gov] Table 1 Clinical characteristics of the 22 patients in the French Barth syndrome cohort 5938 1 F 0.09/Cardiomyopathy 2.56 D (Septic choc) No Del exon 1-5 Yes 0.85 Yes 9/24[ojrd.biomedcentral.com]

    Missing: NT441
  • Sufentanil

    Outcome measures and data collection The study outcomes and the vital parameters were recorded at 2, 6, 12, 24, 36 and 48 h after arrival to the ward.[bmcanesthesiol.biomedcentral.com] The Company has two additional pain treatment product candidates, ARX-02 and ARX-03, which have completed Phase 2 clinical development.[prnewswire.com] Baños Medicina Intensiva (English Edition). 2016; 40(2): 96 4 Evaluación del dolor durante la movilización y la aspiración endotraqueal en pacientes críticos G.[annals.in] El promedio del tiempo de permanencia en la SRPA fue mayor en el GR en con relación al GS (76 49 min, p 0,0001).[scielo.br]

    Missing: NT441
  • Mental Retardation

    Moreover, in a study of 46 males with the 428–451dup (24 bp), it was shown that the degree of MR ranged from mild to severe and infantile spasms occurred in 12.5% and other[latunisiemedicale.com] The paradox of the ARX (Aristaless X) mutations. European Journal of Human Genetics 12: 689–693.[els.net] Abstract We report molecular and cytogenetic characterization of proximal deletion of chromosome 4q, del(4)(q12 -- q21.21) in a 131/2-year-old girl with short stature, mental[ncbi.nlm.nih.gov] A conventional cytogenetic study revealed the complex structural rearrangement of chromosome 20 [der (20) dup (20) (p11.2p13) del (20) (p13.pter)].[ncbi.nlm.nih.gov]

    Missing: NT441
  • Benign Familial Neonatal Epilepsy

    Volkers L, Rook MB, Das JH, Verbeek NE, Groenewegen WA, van Kempen MJ, Lindhout D, Koeleman BP.[ghr.nlm.nih.gov] Forms and Documents Test Details Genes: ADSL, ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX, ASNS, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4[genedx.com] Miraglia del Giudice E, Coppola G, Scuccimarra G, Cirillo G, Bellini G, Pascotto A (2000).[en.wikipedia.org] AD 50% SCN1A AD 13% PLCB1 AR 2 cases TBC1D24 AR 1 family West syndrome TSC1/2 Tuberous sclerosis AD 20% (where onset of spasms without other prior seizures is reported) ARX[rch.org.au]

    Missing: NT441
  • Meckel-Gruber Syndrome

    Analysis methods PLUS SEQ DEL/DUP Test code KI1601 Panel size Small CPT codes SEQ 81407 SEQ 81408 DEL/DUP 81479 SEQ 81479 Summary The Blueprint Genetics Meckel Syndrome Panel[blueprintgenetics.com] Forms and Documents Test Details Genes: ACTB, ACTG1, ADGRG1, AHI1, AKT3, AMPD2, ARFGEF2, ARL13B, ARX, ASPM, ATP6V0A2, B3GALNT2, B4GAT1, B9D1, B9D2, C5orf42, CASK, CC2D2A,[genedx.com] Se presenta el caso de una lactante que al nacer presentó la triada del síndrome de Meckel-Gruber y otras alteraciones, entre las que destacó la aplasia bilateral del nervio[actapediatrica.org.mx] PILORODERMOLISI EPIDERMICA BULLOSA/ EPIDERMOLISI BULLOSA SEMPLICEDISAUTONOMIA DEL FATTORE 13DICHERATOSI CONGENITADISORDINE EREDITARIO DELLA GLICOSILAZIONE DI TIPO LA- CDG[ivf-embryo.gr]

    Missing: NT441
  • Disorder of Sex Development

    17,608) 99.99% 11-50 bps 99.07% (957/966) 99.99% Copy number variants (exon level dels/dups) Clinical samples (small CNVs, n 52) 1 exon level deletion 92.3% (24/26) NA 2[blueprintgenetics.com] Our 46,XY DSD/CGD Sequencing Panel includes full gene sequencing of ANKR1C, AMH, AMHR2, AR, ARX, ATRX, B3GALTL, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, CYNC2H1, GATA4, HCCS,[dnatesting.uchicago.edu] Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL. 45,X/46,XY mosaicism: report of 27 cases. Pediatrics . 1999;104(2 Pt 1):304–308. 29.[dovepress.com] Analysis methods PLUS SEQ DEL/DUP Test code EN0201 Panel size Large CPT codes SEQ 81405 SEQ 81406 SEQ 81407 DEL/DUP 81479 Summary The Blueprint Genetics Abnormal Genitalia[blueprintgenetics.com]

    Missing: NT441
  • Retinitis Pigmentosa 23

    Test Description Order Options: Sequencing Del/Dup Rush / STAT Exclude VUS MCC Duo/Trio Turnaround Time: 3 - 5 weeks Cost: Call for details Genes: ABCA4, ABHD12, ADGRA3, AIPL1[fulgentgenetics.com] 17,608) 99.99% 11-50 bps 99.07% (957/966) 99.99% Copy number variants (exon level dels/dups) Clinical samples (small CNVs, n 52) 1 exon level deletion 92.3% (24/26) NA 2[blueprintgenetics.com] PTCHD1 , PPP4R3C , MAGEB10 , DCAF8L1 , MAGEB16 , ASB11 , ASB9 , CBLL2 , USP27X-AS1 , FAM47A , MOSPD2 , MAGEB6 , CXorf38 , DDX53 , FAM47B , CXorf22 , SUPT20HL2 , TCEANC , ARX[ncbi.nlm.nih.gov] Foreløpig er det oppdaget 278 genfeil som er forbundet med netthinnesykdommer, alene eller som del av syndromer.[blindeforbundet.no]

    Missing: NT441