| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures
|
Busche, Andreas
|
|
2008
|
51 |
6 |
p. 615-621
7 p.
|
artikel
|
| 2 |
AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions
|
Poot, Martin
|
|
2008
|
51 |
6 |
p. 689-690
2 p.
|
artikel
|
| 3 |
A 12Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea
|
Rossi, Elena
|
|
2008
|
51 |
6 |
p. 631-638
8 p.
|
artikel
|
| 4 |
A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff–Parkinson–White syndrome
|
Le Gloan, Laurianne
|
|
2008
|
51 |
6 |
p. 651-657
7 p.
|
artikel
|
| 5 |
A 2.3Mb deletion of 17q24.2–q24.3 associated with ‘Carney Complex plus’
|
Blyth, Moira
|
|
2008
|
51 |
6 |
p. 672-678
7 p.
|
artikel
|
| 6 |
A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients
|
Kiholm Lund, Ann-Britt
|
|
2008
|
51 |
6 |
p. 520-526
7 p.
|
artikel
|
| 7 |
Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia
|
Kaya, Namik
|
|
2008
|
51 |
6 |
p. 558-565
8 p.
|
artikel
|
| 8 |
Clinical and molecular characterization of 40 patients with Noonan syndrome
|
Ferrero, Giovanni Battista
|
|
2008
|
51 |
6 |
p. 566-572
7 p.
|
artikel
|
| 9 |
Clinical variability of the 22q11.2 duplication syndrome
|
Wentzel, Christian
|
|
2008
|
51 |
6 |
p. 501-510
10 p.
|
artikel
|
| 10 |
Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma
|
Isidor, Bertrand
|
|
2008
|
51 |
6 |
p. 679-684
6 p.
|
artikel
|
| 11 |
Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21
|
Cardoso, Leila C.A.
|
|
2008
|
51 |
6 |
p. 588-597
10 p.
|
artikel
|
| 12 |
Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation
|
Doco-Fenzy, Martine
|
|
2008
|
51 |
6 |
p. 598-607
10 p.
|
artikel
|
| 13 |
Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities
|
Faas, Brigitte H.W.
|
|
2008
|
51 |
6 |
p. 511-519
9 p.
|
artikel
|
| 14 |
GATA4 mutations in 486 Chinese patients with congenital heart disease
|
Zhang, Weimin
|
|
2008
|
51 |
6 |
p. 527-535
9 p.
|
artikel
|
| 15 |
IFC - Editorial Board redaction
|
|
|
2008
|
51 |
6 |
p. IFC-
1 p.
|
artikel
|
| 16 |
Left-ventricular non-compaction (LVNC): A clinical feature more often observed in terminal deletion 1p36 than previously expected
|
Cremer, Kirsten
|
|
2008
|
51 |
6 |
p. 685-688
4 p.
|
artikel
|
| 17 |
M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism
|
Behjati, Farkhondeh
|
|
2008
|
51 |
6 |
p. 608-614
7 p.
|
artikel
|
| 18 |
6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development
|
Göhring, Ina
|
|
2008
|
51 |
6 |
p. 666-671
6 p.
|
artikel
|
| 19 |
1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype
|
Rødningen, Olaug K.
|
|
2008
|
51 |
6 |
p. 646-650
5 p.
|
artikel
|
| 20 |
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases
|
Tempesta, Sergio
|
|
2008
|
51 |
6 |
p. 639-645
7 p.
|
artikel
|
| 21 |
Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: Clinical data and molecular characterization
|
Schluth-Bolard, Caroline
|
|
2008
|
51 |
6 |
p. 622-630
9 p.
|
artikel
|
| 22 |
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis
|
Han, Dong
|
|
2008
|
51 |
6 |
p. 536-546
11 p.
|
artikel
|
| 23 |
Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: A cytogenetic pitfall
|
Carelle-Calmels, Nadège
|
|
2008
|
51 |
6 |
p. 547-557
11 p.
|
artikel
|
| 24 |
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly
|
Ginocchio, Virginia M.
|
|
2008
|
51 |
6 |
p. 658-665
8 p.
|
artikel
|
| 25 |
T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease
|
Liu, Caixia
|
|
2008
|
51 |
6 |
p. 580-587
8 p.
|
artikel
|
| 26 |
The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: Follow up in a 14-year-old girl
|
Rittinger, Olaf
|
|
2008
|
51 |
6 |
p. 573-579
7 p.
|
artikel
|
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