Search details
1.
An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.
Hum Mutat
; 39(3): 394-405, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29215764
2.
New insights into the performance of human whole-exome capture platforms.
Nucleic Acids Res
; 43(11): e76, 2015 Jun 23.
Article
in English
| MEDLINE | ID: mdl-25820422
3.
Hb Bakersfield (HBA1: c.151_152insGGAGCC): The Insertion of Arg-His Between Codons 49 and 50 of the α1-Globin Chain Leads to Increased Oxygen Affinity.
Hemoglobin
; 41(1): 1-5, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-28532286
4.
Detection of germline rearrangements in patients with α- and ß-thalassemia using high resolution array CGH.
Blood Cells Mol Dis
; 51(1): 39-47, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23491071
5.
A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report.
Appl Clin Genet
; 16: 83-87, 2023.
Article
in English
| MEDLINE | ID: mdl-37197323
6.
Microdeletion 19p13.2 in an almost 5-year-old boy.
Am J Med Genet A
; 158A(5): 1190-4, 2012 May.
Article
in English
| MEDLINE | ID: mdl-22488779
7.
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.
J Med Genet
; 48(2): 117-22, 2011 Feb.
Article
in English
| MEDLINE | ID: mdl-21037274
8.
Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer.
Swiss Med Wkly
; 151: w30038, 2021 09 13.
Article
in English
| MEDLINE | ID: mdl-34519462
9.
Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance.
Am J Med Genet A
; 152A(8): 2053-6, 2010 Aug.
Article
in English
| MEDLINE | ID: mdl-20635353
10.
Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2.
Am J Med Genet A
; 152A(2): 434-7, 2010 Feb.
Article
in English
| MEDLINE | ID: mdl-20101691
11.
Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.
Am J Med Genet A
; 152A(4): 987-93, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20358614
12.
Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation family.
Am J Med Genet A
; 149A(2): 237-41, 2009 Feb.
Article
in English
| MEDLINE | ID: mdl-19161139
13.
A Swiss (εγδß)°-thalassemia patient with a novel 3-Mb deletion associated with mild mental impairment.
Am J Hematol
; 88(2): 158-9, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23255297
14.
[Impact of tumorcytogenetics in tumor diagnostics]. / Bedeutung der Tumorzytogenetik in der Tumordiagnostik.
Ther Umsch
; 65(9): 473-80, 2008 Sep.
Article
in German
| MEDLINE | ID: mdl-18791960
15.
Recurrence risk in de novo structural chromosomal rearrangements.
Am J Med Genet A
; 143A(15): 1708-14, 2007 Aug 01.
Article
in English
| MEDLINE | ID: mdl-17603796
16.
TRIB1 overexpression in acute myeloid leukemia.
Cancer Genet Cytogenet
; 176(1): 58-60, 2007 Jul 01.
Article
in English
| MEDLINE | ID: mdl-17574965
17.
The Application of Next-Generation Sequencing for Mutation Detection in Autosomal-Dominant Hereditary Hearing Impairment.
Otol Neurotol
; 38(6): 900-903, 2017 07.
Article
in English
| MEDLINE | ID: mdl-28419064
18.
Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients.
Semin Oncol
; 44(3): 187-197, 2017 06.
Article
in English
| MEDLINE | ID: mdl-29248130
19.
Lymphadenopathy driven by TCR-Vγ8Vδ1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome.
Blood Adv
; 1(15): 1101-1106, 2017 Jun 27.
Article
in English
| MEDLINE | ID: mdl-29296752
20.
Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?
Mol Cytogenet
; 9: 88, 2016.
Article
in English
| MEDLINE | ID: mdl-27980676