About: Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion

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About: Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion Goto Sponge NotDistinct Permalink

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scientific article published on 01 January 1982

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) articolo scientifico (pubblicato il 1982) (it) наукова стаття, опублікована в січні 1982 (uk) article scientifique publié en 1982 (fr) im Jahr 1982 veröffentlichter wissenschaftlicher Artikel (de) artikull shkencor i botuar më 01 janar 1982 (sq) scientific article published on 01 January 1982 (en) artículu científicu espublizáu en xineru de 1982 (ast)
publication date	wds:Q70563773-55914C6F-F222-438C-8FDF-C4061C664AA5
publication date	1982-01-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q70563773-D0B6BAA7-34B7-45F8-A467-66B0F10F2AE1
exact match	https://scigraph.springernature.com/pub.10.1007/bf00282296
cites work	wds:Q70563773-013E183C-6DCB-49F4-BD5E-EF9321147680 wds:Q70563773-1E98C31C-3D72-47CA-A867-3DB1074F2EEA wds:Q70563773-206B665F-80FA-4C4A-9B66-32BB1C9CA234 wds:Q70563773-3784CB66-03AD-4F2C-BA14-70567F3ED096 wds:Q70563773-4B1FA670-69FB-4D7B-842F-39E9D9924A4D wds:Q70563773-80A8C05C-1112-4F7D-B142-236C920BAA88 wds:Q70563773-8AD876DE-1A09-4441-8E09-E2852588A4C8 wds:Q70563773-8C60CD9F-2C77-437C-9507-594A9212AD73 wds:Q70563773-A21377FE-FD5E-46FE-A6C2-8ED91C7ED8B5 wds:Q70563773-A8C6AC87-B1D1-4CCF-AC20-67DFECF2ABD2 wds:Q70563773-CD73AAE6-6D16-454D-B633-1BD6EB349C74 wds:Q70563773-CED6D10B-7C52-4608-A4A8-4517CB7782F6 wds:Q70563773-D8A0BC35-93D6-4026-9A67-BE0533086419
cites work	Mental retardation associated with "balanced" chromosome rearrangements Paracentric Inversion in man: personal experience and review of the literature Two cases of familial paracentric inversion in man associated with sex chromosome anomaly. 47,XXY,inv(5)(q21q32) and 45,X,inv(7)(q11.3q22.3). De novo 13q paracentric inversion in a boy with cleft palate and mental retardation Identification of chromosomal abnormalities by quinacrine-staining technique in patients with normal karyotypes by conventional analysis. Paracentric inversion of a human chromosome 7 A case of a paracentric inversion inv(7)(q11q22). Prenatal detection and counselling Retinoblastoma with 13q- Chromosomal Deletion Associated with Maternal Paracentric Inversion of 13q [Goldenhar's syndrome and hydrocephalus (author's transl)] An international system for human cytogenetic nomenclature--high-resolution banding (1981). ISCN (1981). Report of the Standing Committee on Human Cytogenetic Nomenclature High resolution R- and G-banding on the same preparation A mentally and physically retarded girl with a familial balanced reciprocal translocation t(7;13) Phenotypic effects of inherited balanced translocation
author name string	wds:Q70563773-104F8710-21D8-430F-BE5B-31EB85AEDD00 wds:Q70563773-344D1EA3-6B15-4D6D-8927-75AAD01B1501 wds:Q70563773-5208B7C8-0DD2-42CA-9662-612731971279 wds:Q70563773-CA5F3FFC-AE79-4C37-84E4-0F9B778E9F93
author name string	A Fischer R Lorenz J J Hoo W Fuhrmann
rdfs:label	Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion (en) Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion (nl) Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion (sq)
skos:prefLabel	Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion (en) Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion (nl) Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion (sq)
name	Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion (en) Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion (nl) Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion (sq)
title	wds:Q70563773-862725D2-AC45-46A8-9FA1-D616E4288E7F
title	Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion (en)
page(s)	wds:Q70563773-364A24D9-AC0C-421B-9CFC-9545AE99389A
page(s)	113-116
instance of	wds:Q70563773-2BC9CA4F-5F89-4E0F-ABF2-0C5E791CF9D7
instance of	scholarly article
PubMed ID	wds:Q70563773-DD230D92-8ACC-427D-9FD4-92726268FD85
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/7160842
PubMed ID	7160842
published in	wds:Q70563773-B3596E6A-6ECE-4641-83C3-FD83C0D25293
published in	Human Genetics
issue	wds:Q70563773-D1259AFE-B140-4914-8DF7-D5B23B498B57
volume	wds:Q70563773-11E46AEA-EB10-424D-B9CF-E5558FAA9430
issue	2
volume	62
DOI	wds:Q70563773-2A64C285-FDD3-47F1-B2A2-4BC9656681E9
DOI	http://dx.doi.org/10.1007/BF00282296
DOI	10.1007/BF00282296
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q70563773
is cites work of	The phenotype of partial dup(7q) reconsidered: a report of five new cases Pure partial trisomy 7q: two new patients and review A paracentric inversion of 7q illustrating a possible interchromosomal effect Genetic markers on chromosome 7. Sperm chromosome analysis in a man heterozygous for a paracentric inversion of chromosome 7 (q11q22) Paracentric inversions in human chromosome 7 Paracentric inversions in man. Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5 Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q) Paracentric inversions: a review Familial paracentric inversion of chromosome 15 (q15q24). A dicentric recombinant 9 derived from a paracentric inversion: phenotype, cytogenetics, and molecular analysis of centromeres Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature A familial paracentric inversion: a short review of the current status Reproductive outcomes of paracentric inversion carriers: report of a liveborn dicentric recombinant and literature review Familial paracentric inversions inv(2)(q31q35) and inv(8)(q22.3q24.13) ascertained through reproductive abnormalities Familial pericentric and paracentric inversions of chromosome 1 Paracentric inversions in man A case of perineal hypospadias with paracentric inversion of chromosome 14 Familial paracentric inversion inv(2)(q31q36) Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat De novo inverted duplication of chromosome 7(q21.3-->q35): cytogenetic diagnosis confirmed by FISH analysis Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions Constitutional inversion of chromosome 7 and hematologic cancers Human chromosome 8.

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