| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia
|
Northup, Jill K.
|
|
2011
|
54 |
4 |
p. e394-e398
nvt p.
|
artikel
|
| 2 |
A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1
|
Mohrmann, Inga
|
|
2011
|
54 |
4 |
p. e461-e464
nvt p.
|
artikel
|
| 3 |
A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith–Wiedemann syndrome
|
De Crescenzo, Agostina
|
|
2011
|
54 |
4 |
p. e451-e454
nvt p.
|
artikel
|
| 4 |
A 17q12 chromosomal duplication associated with renal disease and esophageal atresia
|
Faguer, Stanislas
|
|
2011
|
54 |
4 |
p. e437-e440
nvt p.
|
artikel
|
| 5 |
Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation
|
Gilling, Mette
|
|
2011
|
54 |
4 |
p. e383-e388
nvt p.
|
artikel
|
| 6 |
Characterization of a complex rearrangement of a chromosome 20 by FISH and array CGH
|
Bertini, Veronica
|
|
2011
|
54 |
4 |
p. e419-e424
nvt p.
|
artikel
|
| 7 |
Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations
|
Zhang, Jin
|
|
2011
|
54 |
4 |
p. e377-e382
nvt p.
|
artikel
|
| 8 |
Editorial Board
|
|
|
2011
|
54 |
4 |
p. i-
1 p.
|
artikel
|
| 9 |
Hexasomy of the Prader–Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: Case report
|
Kraoua, Lilia
|
|
2011
|
54 |
4 |
p. e446-e450
nvt p.
|
artikel
|
| 10 |
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings
|
Spielmann, Malte
|
|
2011
|
54 |
4 |
p. e441-e445
nvt p.
|
artikel
|
| 11 |
Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: A case report
|
Keller, Sylvia
|
|
2011
|
54 |
4 |
p. e458-e460
nvt p.
|
artikel
|
| 12 |
Initiation of a medical genetics service in sub-Saharan Africa: Experience of prenatal diagnosis in Cameroon
|
Wonkam, Ambroise
|
|
2011
|
54 |
4 |
p. e399-e404
nvt p.
|
artikel
|
| 13 |
Letter regarding the article: “21 Mb deletion in chromosome band 13q22.2–q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features” by Grigori et al.
|
Rivera, Horacio
|
|
2011
|
54 |
4 |
p. e468-
1 p.
|
artikel
|
| 14 |
Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome
|
Zhang, Huiwen
|
|
2011
|
54 |
4 |
p. e389-e393
nvt p.
|
artikel
|
| 15 |
Mosaic tetrasomy 14pterq13.1: Longitudinal study
|
Schwanitz, Gesa
|
|
2011
|
54 |
4 |
p. e465-e467
nvt p.
|
artikel
|
| 16 |
Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington’s disease
|
Aziz, N. Ahmad
|
|
2011
|
54 |
4 |
p. e413-e418
nvt p.
|
artikel
|
| 17 |
22q11.2 microduplication in a family with recurrent fetal congenital heart disease
|
Hu, Ping
|
|
2011
|
54 |
4 |
p. e433-e436
nvt p.
|
artikel
|
| 18 |
Response to Dr. H. Rivera regarding article “21 Mb deletion in chromosome band 13q22.2-q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features”
|
Patsalis, Philippos C.
|
|
2011
|
54 |
4 |
p. e469-
1 p.
|
artikel
|
| 19 |
Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I
|
Rué, Marjory
|
|
2011
|
54 |
4 |
p. e405-e408
nvt p.
|
artikel
|
| 20 |
R171H missense mutation of INSL6 in a patient with spermatogenic failure
|
Chen, Guo-Wu
|
|
2011
|
54 |
4 |
p. e455-e457
nvt p.
|
artikel
|
| 21 |
Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation
|
Gijsbers, Antoinet C.J.
|
|
2011
|
54 |
4 |
p. e409-e412
nvt p.
|
artikel
|
| 22 |
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries
|
Jehee, Fernanda Sarquis
|
|
2011
|
54 |
4 |
p. e425-e432
nvt p.
|
artikel
|
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