Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. (Record no. 22528638)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03860 a2201285 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516135230.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201310s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1660-2137 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1159/000349989 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Jaureguiberry, Graciana |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20131025 |
| 245 00 - TITLE STATEMENT | |
| Title | Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nephron. Physiology |
| Date of publication, distribution, etc. | 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1-6 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amelogenesis Imperfecta |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dental Enamel Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family Health |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Recessive |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome-Wide Association Study |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nephrocalcinosis |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De la Dure-Molla, Muriel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parry, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quentric, Mickael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Himmerkus, Nina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koike, Toshiyasu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poulter, James |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klootwijk, Enriko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robinette, Steven L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Howie, Alexander J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Patel, Vaksha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Figueres, Marie-Lucile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stanescu, Horia C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Issler, Naomi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nicholson, Jeremy K |
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| Personal name | Bockenhauer, Detlef |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laing, Christopher |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Walsh, Stephen B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McCredie, David A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Povey, Sue |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Asselin, Audrey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Picard, Arnaud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coulomb, Aurore |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Medlar, Alan J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bailleul-Forestier, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verloes, Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le Caignec, Cedric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roussey, Gwenaelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guiol, Julien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isidor, Bertrand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Logan, Clare |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shore, Roger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Johnson, Colin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Inglehearn, Christopher |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Bahlani, Suhaila |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schmittbuhl, Matthieu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clauss, François |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huckert, Mathilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laugel, Virginie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ginglinger, Emmanuelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pajarola, Sandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spartà, Giuseppina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bartholdi, Deborah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rauch, Anita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Addor, Marie-Claude |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yamaguti, Paulo M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Safatle, Heloisa P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Acevedo, Ana Carolina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martelli-Júnior, Hercílio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | dos Santos Netos, Pedro E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coletta, Ricardo D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gruessel, Sandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sandmann, Carolin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ruehmann, Denise |
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| Personal name | Langman, Craig B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scheinman, Steven J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ozdemir-Ozenen, Didem |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hart, Thomas C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hart, P Suzanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neugebauer, Ute |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schlatter, Eberhard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Houillier, Pascal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gahl, William A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vikkula, Miikka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bloch-Zupan, Agnès |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bleich, Markus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kitagawa, Hiroshi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Unwin, Robert J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mighell, Alan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Berdal, Ariane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kleta, Robert |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nephron. Physiology |
| Related parts | vol. 122 |
| -- | no. 1-2 |
| -- | p. 1-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1159/000349989">https://doi.org/10.1159/000349989</a> |
| Public note | Available from publisher's website |
No items available.