Dermatoses in five related female carriers of X-linked chronic granulomatous disease
Eight female members of a family with X-linked chronic granulomatous disease were identified. Five were shown to be carriers of the disease gene. Each of these female carriers of the gene had a history of skin eruptions. The identification of the carrier state is important as genetic counselling sho...
Saved in:
| Published in | British journal of dermatology (1951) Vol. 121; no. 3; p. 391 |
|---|---|
| Main Authors | , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
01.09.1989
|
| Subjects | |
| Online Access | Get more information |
Cover
Loading…
| Abstract | Eight female members of a family with X-linked chronic granulomatous disease were identified. Five were shown to be carriers of the disease gene. Each of these female carriers of the gene had a history of skin eruptions. The identification of the carrier state is important as genetic counselling should be offered and the prenatal diagnosis of this disorder is possible. |
|---|---|
| AbstractList | Eight female members of a family with X-linked chronic granulomatous disease were identified. Five were shown to be carriers of the disease gene. Each of these female carriers of the gene had a history of skin eruptions. The identification of the carrier state is important as genetic counselling should be offered and the prenatal diagnosis of this disorder is possible. |
| Author | Seywright, M Thomson, J Garioch, J J Sampson, J R |
| Author_xml | – sequence: 1 givenname: J J surname: Garioch fullname: Garioch, J J organization: Department of Dermatology, Glasgow Royal Infirmary, Scotland, U.K – sequence: 2 givenname: J R surname: Sampson fullname: Sampson, J R – sequence: 3 givenname: M surname: Seywright fullname: Seywright, M – sequence: 4 givenname: J surname: Thomson fullname: Thomson, J |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/2803962$$D View this record in MEDLINE/PubMed |
| BookMark | eNotj8tOwzAURL0oKm3hE5As9g7XduPES1SeUiU2RWJX3cTX4JJHZScI_p4gOptZzNGRZslmXd8RY9cSMjnl5pBJbXKhpNaZtKXNhgrkWq-z7xlbAEAhwBp9zpYpHQCkhhzmbK5K0NaoBdvdUWxx6BMlHjruwxfxSA0O5LinFhviNcYYKCbee_4mmtB9Tlv9Efsu1Pw9Yjc2_Z9iTNyFRJjogp15bBJdnnrFXh_ud5snsX15fN7cbkWtSyVFSRaBCuOddEAeKg-KpCvAWJO7vEaFHutqIlBRoX1pK-9MDtIbIy1WasWu_r3HsWrJ7Y8xtBh_9qd36hcdflWm |
| CitedBy_id | crossref_primary_10_1016_j_bbmt_2019_04_008 crossref_primary_10_1016_S0190_9622_97_80269_1 crossref_primary_10_1111_j_1365_2133_1990_tb07286_x crossref_primary_10_1111_j_1365_2249_2007_03321_x crossref_primary_10_1007_s10875_013_9939_5 crossref_primary_10_1097_00005792_200005000_00004 crossref_primary_10_1111_j_1540_9740_2005_03927_x crossref_primary_10_1046_j_1365_2230_2000_00610_x crossref_primary_10_1186_1476_7961_9_10 crossref_primary_10_1111_pde_12826 crossref_primary_10_1046_j_1468_3083_2000_00113_x crossref_primary_10_1016_S1079_2104_95_80020_4 crossref_primary_10_1111_j_1365_2133_1992_tb08405_x crossref_primary_10_1111_j_1365_2133_1992_tb00471_x crossref_primary_10_1111_j_1365_4632_2004_01950_x |
| ContentType | Journal Article |
| DBID | CGR CUY CVF ECM EIF NPM |
| DOI | 10.1111/j.1365-2133.1989.tb01434.x |
| DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed |
| DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) |
| DatabaseTitleList | MEDLINE |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
| DeliveryMethod | no_fulltext_linktorsrc |
| Discipline | Medicine |
| ExternalDocumentID | 2803962 |
| Genre | Journal Article Case Reports |
| GroupedDBID | --- .3N .55 .GA .GJ .Y3 05W 0R~ 10A 1CY 1OB 1OC 23N 31~ 33P 36B 3SF 4.4 50Y 50Z 51W 51X 52M 52N 52O 52P 52R 52S 52T 52U 52V 52W 52X 53G 5GY 5HH 5LA 5RE 5VS 5WD 66C 6P2 702 7PT 8-0 8-1 8-3 8-4 8-5 8UM 930 A01 A03 AABZA AACZT AAESR AAEVG AAHHS AAONW AAPGJ AAPXW AARHZ AASGY AAUAY AAVAP AAWDT AAXRX AAZKR ABCQN ABCUV ABEML ABNHQ ABOCM ABPTD ABPVW ABQNK ABWST ABXGK ABXVV ACAHQ ACBWZ ACCFJ ACCZN ACFBH ACFRR ACGFS ACMXC ACPOU ACPRK ACSCC ACUTJ ACXBN ACXQS ACZBC ADBBV ADEOM ADIPN ADIZJ ADKYN ADMGS ADOZA ADQBN ADVEK ADXAS ADZMN ADZOD AEEZP AEIMD AENEX AEQDE AEUQT AFBPY AFEBI AFFNX AFGKR AFPWT AFYAG AFZJQ AGMDO AGQXC AGUTN AHEFC AIACR AIURR AIWBW AJAOE AJBDE AJEEA ALAGY ALMA_UNASSIGNED_HOLDINGS ALUQN AMBMR AMYDB APJGH ASPBG ATGXG ATUGU AVNTJ AVWKF AZBYB AZFZN AZVAB BAFTC BCRHZ BDRZF BHBCM BMXJE BROTX BRXPI BY8 C45 CAG CGR COF CS3 CUY CVF D-6 D-7 D-E D-F DC6 DCZOG DPXWK DR2 DRFUL DRMAN DRSTM DU5 EBS ECM EIF EJD EMOBN ESX EX3 F00 F01 F04 F5P FEDTE FUBAC FZ0 G-S G.N GODZA H.X H13 HF~ HVGLF HZI HZ~ IHE IX1 J0M J5H K48 KBYEO KOP L7B LATKE LC2 LC3 LEEKS LH4 LITHE LOXES LP6 LP7 LUTES LW6 LYRES MK4 MRFUL MRMAN MRSTM MSFUL MSMAN MSSTM MXFUL MXMAN MXSTM N04 N05 N9A NF~ NPM O66 O9- OAUYM OCZFY OIG OJZSN OPAEJ OVD OWPYF P2P P2W P2X P2Z P4B P4D PALCI Q.N Q11 QB0 R.K RIWAO RJQFR ROL ROX RX1 SUPJJ TEORI TMA UB1 V9Y VVN W8V W99 WBKPD WHWMO WIH WIJ WIK WOHZO WOW WQJ WRC WUP WVDHM WXI X7M XG1 Y6R YFH ZGI ZXP ZZTAW ~IA ~WT |
| ID | FETCH-LOGICAL-c3821-8e9a0e76fd1d0ef0bf02e1d706965d5ca2afacbe76a2e73f89bfd6501f6619ab2 |
| ISSN | 0007-0963 |
| IngestDate | Sat Sep 28 08:40:52 EDT 2024 |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 3 |
| Language | English |
| LinkModel | OpenURL |
| MergedId | FETCHMERGED-LOGICAL-c3821-8e9a0e76fd1d0ef0bf02e1d706965d5ca2afacbe76a2e73f89bfd6501f6619ab2 |
| PMID | 2803962 |
| ParticipantIDs | pubmed_primary_2803962 |
| PublicationCentury | 1900 |
| PublicationDate | September 1989 |
| PublicationDateYYYYMMDD | 1989-09-01 |
| PublicationDate_xml | – month: 09 year: 1989 text: September 1989 |
| PublicationDecade | 1980 |
| PublicationPlace | England |
| PublicationPlace_xml | – name: England |
| PublicationTitle | British journal of dermatology (1951) |
| PublicationTitleAlternate | Br J Dermatol |
| PublicationYear | 1989 |
| SSID | ssj0013050 |
| Score | 1.4428304 |
| Snippet | Eight female members of a family with X-linked chronic granulomatous disease were identified. Five were shown to be carriers of the disease gene. Each of these... |
| SourceID | pubmed |
| SourceType | Index Database |
| StartPage | 391 |
| SubjectTerms | Adult Female Genetic Carrier Screening - methods Genetic Linkage Granulomatous Disease, Chronic - complications Granulomatous Disease, Chronic - genetics Humans Pedigree Skin Diseases - etiology Skin Diseases - genetics X Chromosome |
| Title | Dermatoses in five related female carriers of X-linked chronic granulomatous disease |
| URI | https://www.ncbi.nlm.nih.gov/pubmed/2803962 |
| Volume | 121 |
| hasFullText | |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LS8QwEA6rongRX4tvctCTVPrctkfxycJ6cYW9SdIkIrjtgruI_gH_tjNJ-tjFFfVSSlLSx3yZTma-zBByzDKuojAQjmRSOmGUSSfNPOHEjIO94IYh1zUje3ed24ewO4gGrdZng7U0GfOz7OPbfSX_kSq0gVxxl-wfJFsNCg1wDvKFI0gYjr-S8SWq1XHxqklVpwpJQHpvChiRSg5B9WPiaSxJp_kaAwejtdCXmYS4p0_wn5q8FDjE5HUqVDOT8aiRXkKYW-rETSc6POY1nAk3sPIuTHGpbiPgxCznBFuryNK9fH-rXAOV_wcJKuW1tUdiinJVa9kY2qziKrWs7zXgFDR0ZmDKdc3X5ZqIB2vpM7wZurLBxgsNy7Mh5NFQSxmrbaVGwf_YOZNl2_YskIU4QXV5h06fMhjlRmYnk30tm7vWEsLmPN0qWbZjzixYtOHSXydrdsVBzw18NkhL5ptkpWc5FVukX6OIPucUUUQtiqhBES1RRAtFSxRRiyI6hSJqUbRNHq6v-he3jq214WRB4ntOIlPmyrijhCdcqVyuXF96InY7aScSUcZ8pmBewxXMl3GgkpQrAda9p8DASxn322QxL3K5Q2jq8yRlAnPAYvECgT-OWMHM55nLpfB3Sdt8j8eRSajyaD_U3ryOfbJa4-yALCmYv_IQjMExP9Ki-gLidFwI |
| link.rule.ids | 783 |
| linkProvider | National Library of Medicine |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Dermatoses+in+five+related+female+carriers+of+X-linked+chronic+granulomatous+disease&rft.jtitle=British+journal+of+dermatology+%281951%29&rft.au=Garioch%2C+J+J&rft.au=Sampson%2C+J+R&rft.au=Seywright%2C+M&rft.au=Thomson%2C+J&rft.date=1989-09-01&rft.issn=0007-0963&rft.volume=121&rft.issue=3&rft.spage=391&rft_id=info:doi/10.1111%2Fj.1365-2133.1989.tb01434.x&rft_id=info%3Apmid%2F2803962&rft_id=info%3Apmid%2F2803962&rft.externalDocID=2803962 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0007-0963&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0007-0963&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0007-0963&client=summon |