Isabel Filges : rechercher sur Z-Library

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Don't use scam websites

Livres
Articles (29)
Les plus populaires
Liste
- Liste
- Tableau

1

Failure to identify antenatal multiple congenital contractures and fetal akinesia - proposal of guidelines to improve diagnosis

Filges, Isabel, Hall, Judith G.

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 267 KB

english, 2013

2

Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

Al-Kateb, Hussam, Khanna, Geetika, Filges, Isabel, Hauser, Natalie, Grange, Dorothy K., Shen, Joseph, Smyser, Christopher D., Kulkarni, Shashikant, Shinawi, Marwan

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 885 KB

english, 2014

3

Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management

Filges, Isabel, Tercanli, Sevgi, Hall, Judith G.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2019

Langue:

english

Fichier:

PDF, 1.85 MB

english, 2019

4

Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients

Danielle Martinet, Isabel Filges, Nathalie Besuchet Schmutz, Michael A. Morris, Anne-Claude Gaide, Sophie Dahoun, Armand Bottani, Marie-Claude Addor, Stylianos E. Antonarakis, Jacques S. Beckmann, Fré

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 227 KB

english, 2008

5

Mosaic ring chromosome 8: Clinical and array-CGH findings in partial trisomy 8

Isabel Filges, Benno Röthlisberger, Friedel Wenzel, Karl Heinimann, Andreas R. Huber, Peter Miny

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 152 KB

english, 2008

6

Familial 14.5 Mb interstitial deletion 13q21.1–13q21.33: Clinical and array-CGH study of a benign phenotype in a three-generation family

Isabel Filges, Benno Röthlisberger, Christoph Noppen, Nemya Boesch, Friedel Wenzel, Judith Necker, Franz Binkert, Andreas R. Huber, Karl Heinimann, Peter Miny

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 142 KB

english, 2009

7

Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype–genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome

Isabel Filges, Benno Röthlisberger, Nemya Boesch, Peter Weber, Friedel Wenzel, Andreas R. Huber, Karl Heinimann, Peter Miny

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 231 KB

english, 2010

8

A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1

Yaping Wang, Waltraut Friedl, Marlies Sengteller, Matthias Jungck, Isabel Filges, Peter Propping, Elisabeth Mangold

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 379 KB

english, 2002

9

aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis

Isabel Filges, Anjeung Kang, Vanessa Klug, Friedel Wenzel, Karl Heinimann, Sevgi Tercanli, Peter Miny

Journal:

Prenatal Diagnosis

Année:

2011

Langue:

english

Fichier:

PDF, 150 KB

english, 2011

10

Author's reply to Toutain's correspondence

Isabel Filges, Peter Miny

Journal:

Prenatal Diagnosis

Année:

2011

Langue:

english

Fichier:

PDF, 41 KB

english, 2011

11

We are failing to identify disorders of fetal movement – why?

Isabel Filges, Judith G. Hall

Journal:

Prenatal Diagnosis

Année:

2012

Langue:

english

Fichier:

PDF, 49 KB

english, 2012

12

A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis

Isabel Filges, Christophe Kunz, Peter Miny, Nemya Boesch, Gabor Szinnai, Friedel Wenzel, Sibil Tschudin, Urs Zumsteg, Karl Heinimann

Journal:

Fertility and Sterility

Année:

2011

Langue:

english

Fichier:

PDF, 722 KB

english, 2011

13

High resolution array in the clinical approach to chromosomal phenotypes

Isabel Filges, Luzia Suda, Peter Weber, Alexandre N. Datta, Dirk Fischer, Patricia Dill, Réné Glanzmann, Jörg Benzing, Lukas Hegi, Friedel Wenzel, Andreas R. Huber, Andrea Capone Mori, Peter Miny, Ben

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 386 KB

english, 2012

14

Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies

Isabel Filges, Anjeung Kang, Vanessa Klug, Friedel Wenzel, Karl Heinimann, Sevgi Tercanli, Peter Miny

Journal:

Molecular Cytogenetics

Année:

2012

Langue:

english

Fichier:

PDF, 177 KB

english, 2012

15

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

Filges, Isabel, Sparagana, Steven, Sargent, Michael, Selby, Kathryn, Schlade-Bartusiak, Kamilla, Lueder, Gregg T., Robichaux-Viehoever, Amy, Schlaggar, Bradley L., Shimony, Joshua S., Shinawi, Marwan

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 1.43 MB

english, 2014

16

Exome sequencing for gene discovery in lethal fetal disorders - harnessing the value of extreme phenotypes

Filges, Isabel, Friedman, Jan M.

Journal:

Prenatal Diagnosis

Année:

2014

Langue:

english

Fichier:

PDF, 88 KB

english, 2014

17

TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability

Sidler, Jan A., Filges, Isabel, Boesch, Nemya, Ramelli, Gian Paolo, Röthlisberger, Benno, Huber, Andreas R., Tercanli, Sevgi, Bronz, Lucio, Miny, Peter, Heinimann, Karl

Journal:

Clinical Dysmorphology

Année:

2012

Langue:

english

Fichier:

PDF, 174 KB

english, 2012

18

Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?

Miny, Peter, Wenzel, Friedel, Tercanli, Sevgi, Filges, Isabel

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 198 KB

english, 2013

19

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF

Filges, Isabel, Bruder, Elisabeth, Brandal, Kristin, Meier, Stephanie, Undlien, Dag Erik, Waage, Trine Rygvold, Hoesli, Irene, Schubach, Max, de Beer, Tjaart, Sheng, Ying, Hoeller, Sylvia, Schulzke, S

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.76 MB

english, 2016

20

Erhöhte fetale Nackentransparenz – auch ein Risiko für seltene submikroskopische Chromosomenstörung

Tercanli, Sevgi, Miny, Peter, Filges, Isabel

Journal:

Ultraschall in der Medizin / European Journal of Ultrasound

Année:

2015

Fichier:

PDF, 199 KB

2015

21

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF

Filges, Isabel, Bruder, Elisabeth, Brandal, Kristin, Meier, Stephanie, Undlien, Dag Erik, Waage, Trine Rygvold, Hoesli, Irene, Schubach, Max, de Beer, Tjaart, Sheng, Ying, Hoeller, Sylvia, Schulzke, S

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 80 KB

english, 2016

22

A novel homozygous splice-site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development

Meier, Nicole, Bruder, Elisabeth, Filges, Isabel

Journal:

Prenatal Diagnosis

Année:

2017

Langue:

english

Fichier:

PDF, 832 KB

english, 2017

23

Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

Daniela Strunk,Peter Weber,Benno Röthlisberger,Isabel Filges

Journal:

Molecular Cytogenetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.54 MB

english, 2016

24

Microarray-Based Maps of Copy-Number Variant Regions in European and Sub-Saharan Populations

Vogler, Christian, Gschwind, Leo, Röthlisberger, Benno, Huber, Andreas, Filges, Isabel, Miny, Peter, Auschra, Bianca, Stetak, Attila, Demougin, Philippe, Vukojevic, Vanja, Kolassa, Iris-Tatjana, Elber

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 1005 KB

english, 2010

25

A Diagnostic Challenge: Prenatal Ultrasound Findings in Severe Epidermolysis Bullosa

De Geyter, Julie, Filges, Isabel, Tercanli, Sevgi

Journal:

Ultraschall in der Medizin / European Journal of Ultrasound

Année:

2018

Langue:

english

Fichier:

PDF, 105 KB

english, 2018

26

CUGC for Stromme syndrome and CENPF-related disorders

Filges, Isabel, Stromme, Petter

Journal:

European Journal of Human Genetics

Année:

2019

Langue:

english

Fichier:

PDF, 352 KB

english, 2019

27

Expanding the spectrum of SMAD3 ârelated phenotypes to agnathiaâotocephaly

Meier, Nicole, Bruder, Elisabeth, Miny, Peter, Tercanli, Sevgi, Filges, Isabel

Journal:

Molecular Genetics & Genomic Medicine

Année:

2020

Langue:

english

Fichier:

PDF, 636 KB

english, 2020

28

Dual independent genetic etiologies in a lethal complex malformation phenotype

Filges, Isabel, Genewein, Agnes, Weber, Peter, Meier, Stephanie, Deigendesch, Nikolaus, Bruder, Elisabeth, PrÃ¼fer, Friederike, Tercanli, Sevgi

Journal:

Ultraschall in der Medizin / European Journal of Ultrasound

Année:

2020

Fichier:

PDF, 254 KB

2020

29

âKinesinopathiesâ: emerging role of the kinesin family member genes in birth defects

Kalantari, Silvia, Filges, Isabel

Journal:

Journal of Medical Genetics

Année:

2020

Fichier:

PDF, 1.87 MB

2020