• Something wrong with this record ?

Childhood overgrowth in patients with common NF1 microdeletions

Miriam Spiegel, Konrad Oexle, Denise Horn, Elke Windt, Annegret Buske, Beate Albrecht, Eva-Christina Prott, Eva Seemanová, Joerg Seidel, Thorsten Rosenbaum, Dieter Jenne, Hildegard Kehrer-Sawatzki and Sigrid Tinschert

. 2005 ; 13 (7) : 883-888.

Language English Country Great Britain

Persistent link   https://www.medvik.cz/link/bmc12029440

Grant support
NE6912 MZ0 CEP Register
NR7916 MZ0 CEP Register

Digital library NLK
Full text - Část
Full text - Část
Source
Source

E-resources Online

NLK ProQuest Central from 2000-01-01 to 1 year ago
Open Access Digital Library from 1998-01-01
Medline Complete (EBSCOhost) from 1998-01-01 to 2015-12-31
Health & Medicine (ProQuest) from 2000-01-01 to 1 year ago

Links

Knihovny.cz E-resources

While growth retardation and short stature are well-known features of patients with classical neurofibromatosis type 1 (NF1), we found advanced height growth and accelerated carpal bone age in patients with an NF1 microdeletion. Our analysis is based on growth data of 21 patients with common 1.4/1.2 Mb microdeletions, including three patients with a Weaver-like appearance. Overgrowth was most evident in preschool children (2-6 years, n=10, P=0.02). We conclude that childhood overgrowth is part of the phenotypic spectrum in patients with the common 1.4/1.2 Mb NF1 microdeletions and assume that the chromosomal region comprised by the microdeletions contains a gene whose haploinsufficiency causes overgrowth.

Obsahuje tabulku

Bibliography, etc.

Literatura

000      
00000naa a2200000 a 4500
001      
bmc12029440
003      
CZ-PrNML
005      
20131016083338.0
007      
ta
008      
120910s2005 xxk do f 000 0eng||
009      
AR
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxk
100    1_
$a Spiegel, Miriam $u Institut für Medizinische Genetik, Charité, Humboldt-Universität, Berlin, Germany
245    10
$a Childhood overgrowth in patients with common NF1 microdeletions / $c Miriam Spiegel, Konrad Oexle, Denise Horn, Elke Windt, Annegret Buske, Beate Albrecht, Eva-Christina Prott, Eva Seemanová, Joerg Seidel, Thorsten Rosenbaum, Dieter Jenne, Hildegard Kehrer-Sawatzki and Sigrid Tinschert
500    __
$a Obsahuje tabulku
504    __
$a Literatura $b 52
520    9_
$a While growth retardation and short stature are well-known features of patients with classical neurofibromatosis type 1 (NF1), we found advanced height growth and accelerated carpal bone age in patients with an NF1 microdeletion. Our analysis is based on growth data of 21 patients with common 1.4/1.2 Mb microdeletions, including three patients with a Weaver-like appearance. Overgrowth was most evident in preschool children (2-6 years, n=10, P=0.02). We conclude that childhood overgrowth is part of the phenotypic spectrum in patients with the common 1.4/1.2 Mb NF1 microdeletions and assume that the chromosomal region comprised by the microdeletions contains a gene whose haploinsufficiency causes overgrowth.
590    __
$a bohemika - dle Pubmed
650    02
$a mladiství $7 D000293
650    02
$a dospělí $7 D000328
650    02
$a tělesná výška $x genetika $7 D001827
650    02
$a dítě $7 D002648
650    02
$a vývoj dítěte $7 D002657
650    02
$a předškolní dítě $7 D002675
650    02
$a obličej $x abnormality $7 D005145
650    02
$a ženské pohlaví $7 D005260
650    02
$a lidé $7 D006801
650    02
$a mužské pohlaví $7 D008297
650    02
$a lidé středního věku $7 D008875
650    02
$a neurofibromatóza 1 $x etiologie $x genetika $7 D009456
650    02
$a neurofibromin 1 $x genetika $7 D025542
650    02
$a referenční hodnoty $7 D012016
650    02
$a sekvenční delece $7 D017384
700    1_
$a Oexle, Konrad $u Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, TU Dresden, Germany; Otto-Heubner-Centrum für Kinder- und Jugendmedizin, Charité, Humboldt-Universität, Berlin, Germany
700    1_
$a Horn, Denise $u Institut für Medizinische Genetik, Charité, Humboldt-Universität, Berlin, Germany
700    1_
$a Windt, Elke $u Otto-Heubner-Centrum für Kinder- und Jugendmedizin, Charité, Humboldt-Universität, Berlin, Germany
700    1_
$a Buske, Annegret $u Praxis für Medizinische Genetik, Medizinisches Zentrum Lichtenberg, Berlin, Germany
700    1_
$a Albrecht, Beate $u Institut für Humangenetik, Universitätklinikum Essen, Germany $7 gn_A_00003535
700    1_
$a Prott, Eva-Christina $u Institut für Humangenetik, Universitätklinikum Essen, Germany
700    1_
$a Seemanová, Eva, $d 1939-2020 $7 jn20000620329 $u Department of Clinical Genetics, Charles University Hospital Prague-Motol, Czech Republic
700    1_
$a Seidel, Joerg $u Klinik für Kinder- und Jugendmedizin Gera, Lehrkrankenhaus der Friedrich-Schiller-Universität Jena, Germany
700    1_
$a Rosenbaum, Thorsten $u Klini für Allgemeine Pädiatre, Universitätklinikum Düsseldorf, Germany
700    1_
$a Jenne, Dieter $u Abteilung Neuroimmunologie, Max-Planck-Institut für Neurobiologie, Planegg Martinsried, Germany
700    1_
$a Kehrer-Sawatzki, Hildegard $u Abteilung Humangenetik, Universität Ulm, Germany
700    1_
$a Tinschert, Sigrid $u Institut für Medizinische Genetik, Charité, Humboldt-Universität, Berlin, Germany; Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, TU Dresden, Germany
773    0_
$t European Journal of Human Genetics $x 1018-4813 $g Roč. 13, č. 7 (2005), s. 883-888 $p Eur J Hum Genet $w MED00005019
773    0_
$p Eur J Hum Genet $g 13(7):883-8, 2005 Jul $x 1018-4813
910    __
$a ABA008 $b B 2517 $y 2 $z 0
990    __
$a 20120910140703 $b ABA008
991    __
$a 20131016083922 $b ABA008
999    __
$a ok $b bmc $g 951640 $s 786815
BAS    __
$a 3
BMC    __
$a 2005 $b 13 $c 7 $d 883-888 $x MED00005019 $i 1018-4813 $m European journal of human genetics $n Eur J Hum Genet
GRA    __
$a NE6912 $p MZ0
GRA    __
$a NR7916 $p MZ0
LZP    __
$a 2012-09/gvbo

Find record

Citation metrics

    Archiving options