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74 Possible Causes for 2 BP, 388AG, DEL,, NR0B1

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  • Cytomegalic Congenital Adrenal Hypoplasia

    […] genetica sta assumendo un’importanza crescente nell’ambito della patologia surrenalica sia per l’identificazione dei geni responsabili di sindromi note da tempo, ad esempio del[link.springer.com] 1 Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal[malacards.org] J Pediatr. 1998 Aug. 133(2):300-2. [Medline]. Parker KL, Schimmer BP. Steroidogenic factor 1: a key determinant of endocrine development and function.[emedicine.medscape.com] Pediatr Res. 2005 May;57(5 Pt 2):62R-69R. Epub 2005 Apr 6. Review. Hammer GD, Parker KL, Schimmer BP.[ghr.nlm.nih.gov]

    Missing: 388AG
  • 46,XY Disorder of Sex Development

    Teebi AS, Murthy DS, Ismail EA, Redha AA (1992) Alagille syndrome with de novo del(20) (p11.2). Am J Med Genet 42: 35–38. View Article Google Scholar 17.[journals.plos.org] STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, NR0B1, LHCGR, ATRX, SOX3, POR, SOX9, RIPK4, NR5A1 , (...)[mendelian.co] Table 2.[doi.org] Del Campo M, Jones MC, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W (1999) Monodactylous limbs and abnormal genitalia are associated[link.springer.com]

    Missing: 388AG
  • Hypogonadotropic Hypogonadism

    Youngsook Kim, Won Jin Kim, Ji Hye Huh, Sujin Lee, Daham Kim, Jae Won Hong and Eun Jig Lee , A 47,X, t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2),Y Klinefelter Variant with Morbid[dx.doi.org] CONCLUSIONS: Two novel DAX1 (NR0B1) mutations were detected in two Chinese families.[ncbi.nlm.nih.gov] The data were frozen for the analyses described below, at which point we had determined 150,396,262 base pairs (bp) of sequence ( Supplementary Table 2 ).[dx.doi.org] Carmen Mosquera Tenreiro, Fernando Ariza Hevia, Cristina Rodríguez Dehli, Joaquín Fernández Toral, Enrique García López and Isolina Riaño Galán , Frecuencia del síndrome de[doi.org]

    Missing: 388AG
  • 14q11-q22 Microdeletion Syndrome

    El ADN del individuo se enfrenta a un patrón de referencia, de forma que podemos discernir las zonas del genoma del mismo que… Download of 11 All materials on our website[allslide.net] , GK, DMD Xp21.2-p21.3 NR0B1 Xp21.2 NR0B1 Xp21.2 multiple Xp11.4-p21.2 I L1RAPL1 (OTC candidate) Xp21.1 Xp21.1 OTC XK X-linked mental retardation (XLMR), microcephaly 300749[anyflip.com] No significant difference in striatal D 2 R BP ND was found between UHR and 22 q 11 DS subjects.[worldwidescience.org] […] deletion at 4p15.31 to 4p15.1 Courtneycaesar. 4p15.1 deletion Chromosome 5 Maddie'sMom12-08-4.18 MB Duplication of 5Q14.3-Q15 & 13.9 MB Duplication of 5Q21.1-Q22.2 lees4899- del[community.babycenter.com]

    Missing: 388AG
  • Congenital Adrenal Gland Hypoplasia

    […] genetica sta assumendo un’importanza crescente nell’ambito della patologia surrenalica sia per l’identificazione dei geni responsabili di sindromi note da tempo, ad esempio del[link.springer.com] When the NR0B1 gene is deleted or mutated, the activity of certain genes is not properly controlled.[en.wikipedia.org] J Pediatr. 1998 Aug. 133(2):300-2. [Medline]. Parker KL, Schimmer BP. Steroidogenic factor 1: a key determinant of endocrine development and function.[emedicine.medscape.com] 32007917 rs267606756 (- T) 613815.0033 pathogenic 32007964 rs267606757 A C CYP21A2*151 Lys121Gln 613815.0035 32006939 Ancestry v2c rs387906510 delGAGACTAC CYP21A2*10 8bp del[snpedia.com]

    Missing: 388AG
  • 46,XX Disorder of Sex Development

    Subject Headings Russian D058489 L9624587no S12087258 Y ЖЕНСКИЙ ПСЕВДОГЕРМАФРОДИТИЗМ SpanishMedical Subject Headings Spanish D058489 L9618267preferred S12084790 Y Trastornos del[doctor.am] […] developmental, endocrine, genetic, infertility, urogenital Phenotypes Ambiguous genitalia ; Decreased testicular size ; Male hypogonadism ; Polycystic ovaries Associated Genes NR0B1[mousephenotype.org] Multiplex 1: ZFX/ZFY(690 bp), sY84 (320 bp), sY127 (274 bp); Multiplex 2: SRY (472 bp), sY86 (326 bp); Multiplex 3: sY254 (400 bp), sY134 (301 bp), sY255 (126 bp).[bmcurol.biomedcentral.com] Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL. 45,X/46,XY mosaicism: report of 27 cases. Pediatrics 1999;104:304–308. PubMed CrossRef Google Scholar 15.[link.springer.com]

    Missing: 388AG
  • Trichorhinophalangeal Dysplasia Type 1

    FGFR3 Del Dup NGS Camurati-Engelmann disease TGFB1 Del Dup NGS Cantu syndrome ABCC9 Del Dup NGS Cantu syndrome NGS panel ABCC9, KCNJ8 Del Dup NGS Cantu syndrome, KCNJ8 related[ctgt.net] CDKL5, CHD7, DHCR7, KRAS, MAP2K1, PLP1, PTPN11, RAI1, RUNX2, SOS1, SRY, MAP2K2, TSC2, SMC1A, NIPBL, NSD1, PTCH1, NF2, BMPR1A, SMAD4, BTK, PMP22, SCN1A, MAPT, AHI1, NF1, NR0B1[mendelian.co] Journal of Dermatology 160 (5), 1006-1010 , 2009 23 2009 A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11. 22–q11. 2[scholar.google.com] N/A 22q11.21-q11.23 22q13.3 Deletion Syndrome 606232 SHANK3 22q13.33 Adenomatous Polyposis Of The Colon; Apc 175100 APC 5q22.2 Adrenal Hypoplasia, Congenital; Ahc 300200 NR0B1[laboratoriogenoma.it]

    Missing: 388AG
  • 3q13.31 Microdeletion Syndrome

    A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum.[degruyter.com] 11,749 Xp21.3-p21.2 #300200; #300018 ADRENAL HYPOPLASIA, CONGENITAL; AHC microdeletions; DOSAGE- SENSITIVE SEX REVERSAL; DSS duplications DAX1 ("non-human RefSeq gene") ( NR0B1[ngrl.org.uk] Pediatr Nephrol 2014, 29 (2):257–267. 10.1007/s00467-013-2625-2 PubMed Central View Article PubMed Google Scholar Rourke BP, Ahmad SA, Collins DW, Hayman-Abello BA, Hayman-Abello[molecularcytogenetics.biomedcentral.com] Renata Posmyk Dipartimento di Scienze Neurologiche, Neurochirurgiche e del Comportamento, Università degli Studi di Siena, Policlinico Le Scotte, Siena, Italy.[nature.com]

    Missing: 388AG
  • Gonadal Dysgenesis

    Androl 28:528–532 PubMed CrossRef Google Scholar AWMF-Leitlinie (2009) Hodenhochstand Nr. 006/022 Google Scholar Bastida MG, Rey RA, Bergadá I, Bedecarrás P, Andreone L, del[doi.org] By high-resolution tiling bacterial artificial chromosome array comparative genome hybridization, a submicroscopic duplication at Xp21.2 containing DAX1 (NR0B1) was identified[ncbi.nlm.nih.gov] Both single-nucleotide variants (SNVs) and small INDELs were called within the Ensembl coding exonic intervals  2 bp using GATK’s Unified Genotyper, then recalibrated and[doi.org] Karyotyping was done and the patients were screened for underlying changes in SRY, desert hedgehog (DHH), DAX1 (NR0B1) and SF1 (NR5A1) genes, mutations in which are implicated[ncbi.nlm.nih.gov]

    Missing: 388AG
  • 22q11.2 Duplication Syndrome

    GENE DEL FATTORE V LEIDEN; SOGGETTI ASINTOMATICI ETEROZIGOTI PER LA SOLA MUTAZIONE G20210A DEL GENE DELLA PROTROMBINA; SOGGETTI OMOZIGOTI PER LA MUTAZIONE C677T DEL GENE[retemalattierare.it] N/A 22q11.21-q11.23 22q13.3 Deletion Syndrome 606232 SHANK3 22q13.33 Adenomatous Polyposis Of The Colon; Apc 175100 APC 5q22.2 Adrenal Hypoplasia, Congenital; Ahc 300200 NR0B1[laboratoriogenoma.it] Agilent 44K oligonucleotide microarray analysis further define the duplicated region between probes mapping to nucleotides 20,131,604 bp and 21,957,339 bp based on build hg18[doi.org] (10) (p15.2) del (10) (q26.2) DELETIONS Q Arm Interstitial Deletion of 298Kb at 10q21.3-q21.3 del 10q26.3qter and dup 10q26.13q26.3 del 10q26.11 P Arm deletion on 10p13 DUPLICATIONS[arcan.org.au]

    Missing: 388AG