Isabelle Schrauwen: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

A De Novo Mutation in TEAD1 Causes Non–X-Linked Aicardi Syndrome

Schrauwen, Isabelle, Szelinger, Szabolcs, Siniard, Ashley L., Corneveaux, Jason J., Kurdoglu, Ahmet, Richholt, Ryan, De Both, Matt, Malenica, Ivana, Swaminathan, Shanker, Rangasamy, Sampathkumar, Kulk

Journal:

Investigative Opthalmology & Visual Science

Year:

2015

Language:

english

File:

PDF, 1000 KB

english, 2015

2

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

Sommen, Manou, Schrauwen, Isabelle, Vandeweyer, Geert, Boeckx, Nele, Corneveaux, Jason J., van den Ende, Jenneke, Boudewyns, An, De Leenheer, Els, Janssens, Sandra, Claes, Kathleen, Verstreken, Margri

Journal:

Year:

2016

Language:

english

File:

PDF, 506 KB

english, 2016

3

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results

Gerald, Brittany, Ramsey, Keri, Belnap, Newell, Szelinger, Szabolcs, Siniard, Ashley L., Balak, Chris, Russell, Megan, Richholt, Ryan, De Both, Matt, Claasen, Ana M., Schrauwen, Isabelle, Huentelman,

Journal:

Seminars in Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 659 KB

english, 2017

4

Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation

Mohamed Ali Mosrati, Isabelle Schrauwen, Hassen Kamoun, Ilhem Charfeddine, Erik Fransen, Abdelmonem Ghorbel, Guy Van Camp, Saber Masmoudi

Journal:

Year:

2012

Language:

english

File:

PDF, 691 KB

english, 2012

5

Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays

Peter, Beate, Lancaster, Hope, Vose, Caitlin, Fares, Amna, Schrauwen, Isabelle, Huentelman, Matthew

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 512 KB

english, 2017

6

Outcome of Treatment regarding Articulation, Resonance and Voice in Flemish Adults with Unilateral and Bilateral Cleft Palate

van Lierde, Kristiane M., De Bodt, Marc, Baetens, Isabelle, Schrauwen, Valentine, van Cauwenberge, Paul

Journal:

Folia Phoniatrica et Logopaedica

Year:

2003

Language:

english

File:

PDF, 77 KB

english, 2003

7

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

Schrauwen, Isabelle, Giese, Arnaud PJ, Aziz, Abdul, Lafont, David Tino, Chakchouk, Imen, Santos-Cortez, Regie Lyn P, Lee, Kwanghyuk, Acharya, Anushree, Khan, Falak Sher, Ullah, Asmat, Nickerson, Debor

Journal:

Journal of Bone and Mineral Research

Year:

2019

Language:

english

File:

PDF, 8.64 MB

english, 2019

8

Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects

Peter, Beate, Dinu, Valentin, Liu, Li, Huentelman, Matthew, Naymik, Marcus, Lancaster, Hope, Vose, Caitlin, Schrauwen, Isabelle

Journal:

Behavior Genetics

Year:

2019

File:

PDF, 764 KB

2019

9

Heterozygosity mapping for human dominant trait variants

Imai‐Okazaki, Atsuko, Li, Yi, Horpaopan, Sukanya, Riazalhosseini, Yasser, Garshasbi, Masoud, Mosse, Yael P., Zhang, Di, Schrauwen, Isabelle, Sharma, Aarushi, Fann, Cathy S. J., Leal, Suzanne M., Lathr

Journal:

Year:

2019

Language:

english

File:

PDF, 617 KB

english, 2019

10

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

Liaqat, Khurram, Hussain, Shabir, Bilal, Muhammad, Nasir, Abdul, Acharya, Anushree, Ali, Raja Hussain, Nawaz, Shoaib, Umair, Muhammad, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.

Journal:

Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 1.11 MB

english, 2019

11

Whole transcriptome profiling of the human hippocampus suggests an involvement of the KIBRA rs17070145 polymorphism in differential activation of the MAPK signaling pathway

Piras, Ignazio S, Krate, Jonida, Schrauwen, Isabelle, Corneveaux, Jason J, Serrano, Geidy E, Sue, Lucia, Beach, Thomas G, Huentelman, Matthew J

Journal:

Year:

2017

Language:

english

File:

PDF, 1.11 MB

english, 2017

12

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

Wonkam-Tingang, Edmond, Schrauwen, Isabelle, Esoh, Kevin K., Bharadwaj, Thashi, Nouel-Saied, Liz M., Acharya, Anushree, Nasir, Abdul, Adadey, Samuel M., Mowla, Shaheen, Leal, Suzanne M., Wonkam, Ambro

Journal:

Year:

2020

File:

PDF, 1.69 MB

2020

13

A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment

Isabelle Schrauwen, Sarah Helfmann, Akira Inagaki, Friederike Predoehl, Mohammad Amin Tabatabaiefar, Maria Magdalena Picher, Manou Sommen, Celia Zazo Seco, Jaap Oostrik, Hannie Kremer, Annelies Dheede

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 600 KB

english, 2012

14

Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease

Giraldo, Margarita, Lopera, Francisco, Siniard, Ashley L., Corneveaux, Jason J., Schrauwen, Isabelle, Carvajal, Julian, Muñoz, Claudia, Ramirez-Restrepo, Manuel, Gaiteri, Chris, Myers, Amanda J., Case

Journal:

Neurobiology of Aging

Year:

2013

Language:

english

File:

PDF, 625 KB

english, 2013

15

Ca 2+ -binding protein 2 inhibits Ca 2+ -channel inactivation in mouse inner hair cells

Picher, Maria Magdalena, Gehrt, Anna, Meese, Sandra, Ivanovic, Aleksandra, Predoehl, Friederike, Jung, SangYong, Schrauwen, Isabelle, Dragonetti, Alberto Giulio, Colombo, Roberto, Van Camp, Guy, Stren

Journal:

Proceedings of the National Academy of Sciences

Year:

2017

Language:

english

File:

PDF, 1.47 MB

english, 2017

16

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

Schrauwen, Isabelle, Chakchouk, Imen, Acharya, Anushree, Liaqat, Khurram, Irfanullah,, Nickerson, Deborah A., Bamshad, Michael J., Shah, Khadim, Ahmad, Wasim, Leal, Suzanne M.

Journal:

BMC Medical Genetics

Year:

2018

Language:

english

File:

PDF, 752 KB

english, 2018

17

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

Schrauwen, Isabelle, Liaqat, Khurram, Schatteman, Isabelle, Bharadwaj, Thashi, Nasir, Abdul, Acharya, Anushree, Ahmad, Wasim, Van Camp, Guy, Leal, Suzanne M.

Journal:

Year:

2020

File:

PDF, 1.07 MB

2020

18

A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear

Schrauwen, Isabelle, Hasin-Brumshtein, Yehudit, Corneveaux, Jason J., Ohmen, Jeffrey, White, Cory, Allen, April N., Lusis, Aldons J., Van Camp, Guy, Huentelman, Matthew J., Friedman, Rick A.

Journal:

Hearing Research

Year:

2015

Language:

english

File:

PDF, 1.97 MB

english, 2015

19

Clinical and genetic analysis of two Tunisian otosclerosis families

Insaf Bel Hadj Ali, Melissa Thys, Najeh Beltaief, Isabelle Schrauwen, Nele Dieltjens, Kathleen Vanderstraeten, Ghazi Besbes, Emna Mnif, Slah Hachicha, Saïda Ben Arab, Guy Van Camp

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 165 KB

english, 2007

20

Association of COL1A1 and TGFB1 Polymorphisms with Otosclerosis in a Tunisian Population

Ayda Khalfallah, Isabelle Schrauwen, Malek Mnejja, Hassen HadjKacem, Leila Dhouib, Mohamed Ali Mosrati, Bochra Hakim, Imed Lahmar, Ilhem Charfeddine, Nabil Driss, Hammadi Ayadi, Abdelmonem Ghorbel, Gu

Journal:

Annals of Human Genetics

Year:

2011

Language:

english

File:

PDF, 108 KB

english, 2011

21

Mutational and Phenotypic Spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome

Faridi, Rabia, Tona, Risa, Brofferio, Alessandra, Hoa, Michael, Olszewski, Rafal, Schrauwen, Isabelle, Assir, Muhammad Z.K., Bandesha, Akhtar A., Khan, Asma A., Rehman, Atteeq U., Brewer, Carmen, Ahme

Journal:

Year:

2018

Language:

english

File:

PDF, 2.10 MB

english, 2018

22

The etiology of otosclerosis: A combination of genes and environment

Isabelle Schrauwen, Guy Van Camp

Journal:

The Laryngoscope

Year:

2010

Language:

english

File:

PDF, 136 KB

english, 2010

23

Commentary on “Otosclerosis: Thirty-Year Follow-Up After Surgery”

Ealy, Megan, Schrauwen, Isabelle, Camp, Guy Van

Journal:

Annals of Otology, Rhinology & Laryngology

Year:

2011

Language:

english

File:

PDF, 154 KB

english, 2011

24

Phenotype of the first otosclerosis family linked to OTSC10

Nicole J.D. Weegerink, Isabelle Schrauwen, Patrick L.M. Huygen, Ronald J.E. Pennings, Cor W.R.J. Cremers, Guy Van Camp, Henricus P.M. Kunst

Journal:

The Laryngoscope

Year:

2011

Language:

english

File:

PDF, 723 KB

english, 2011

25

Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment

Fransen, Erik, Bonneux, Sarah, Corneveaux, Jason J, Schrauwen, Isabelle, Di Berardino, Federica, White, Cory H, Ohmen, Jeffrey D, Van de Heyning, Paul, Ambrosetti, Umberto, Huentelman, Matthew J, Van

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 823 KB

english, 2015

26

Compound heterozygous mutations in MASP1 in a deaf child WITH absent cochlear nerves

Kari, Elina, Schrauwen, Isabelle, Llaci, Lorida, Fisher, Laurel M., Go, John L., Naymik, Marcus, Knowles, James A., Huentelman, Matthew J., Friedman, Rick A.

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 276 KB

english, 2017

27

Advances in Molecular Genetics and the Molecular Biology of Deafness

Nishio, Shin-ya, Schrauwen, Isabelle, Moteki, Hideaki, Azaiez, Hela

Journal:

BioMed Research International

Year:

2016

Language:

english

File:

PDF, 1.15 MB

english, 2016

28

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

Chakchouk, Imen, Zhang, Di, Zhang, Zhihui, Francioli, Laurent C., Santos-Cortez, Regie Lyn P., Schrauwen, Isabelle, Leal, Suzanne M.

Journal:

European Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 1.20 MB

english, 2019

29

Longâread wholeâgenome sequencing for the genetic diagnosis of dystrophinopathies

Xie, Zhiying, Sun, Chengyue, Zhang, Siwen, Liu, Yilin, Yu, Meng, Zheng, Yiming, Meng, Lingchao, Acharya, Anushree, CornejoâSanchez, Diana M, Wang, Gao, Zhang, Wei, Schrauwen, Isabelle, Leal, Suzanne

Journal:

Annals of Clinical and Translational Neurology

Year:

2020

File:

PDF, 2.54 MB

2020

30

A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame

Maarten Vanwesemael, Isabelle Schrauwen, Ruben Ceuppens, Fatemeh Alasti, Ellen Jorssen, Effat Farrokhi, Morteza Hashemzadeh Chaleshtori, Guy Van Camp

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 182 KB

english, 2011

31

Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia

Ayda Khalfallah, Isabelle Schrauwen, Malek Mnaja, Erik Fransen, Imed Lahmar, Megan Ealy, Leila Dhouib, Hammadi Ayadi, Ilhem Charfedine, Nabil Driss, Abdelmonem Ghorbel, Richard J.H. Smith, Saber Masmo

Journal:

Annals of Human Genetics

Year:

2010

Language:

english

File:

PDF, 149 KB

english, 2010

32

COL1A1 association and otosclerosis: A meta-analysis

Isabelle Schrauwen, Ayda Khalfallah, Megan Ealy, Erik Fransen, Charlotte Claes, Alex Huber, Laura Rodriguez Murillo, Saber Masmoudi, Richard J.H. Smith, Guy Van Camp

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 171 KB

english, 2012

33

No Evidence for Association Between the Renin-Angiotensin-Aldosterone System and Otosclerosis in a Large Belgian-Dutch Population

Schrauwen, Isabelle, Thys, Melissa, Vanderstraeten, Kathleen, Fransen, Erik, Ealy, Megan, Cremers, Cor W. R. J., Dhooge, Ingeborg, Van de Heyning, Paul, Offeciers, Erwin, Smith, Richard J. H., Van Cam

Journal:

Otology & Neurotology

Year:

2009

Language:

english

File:

PDF, 100 KB

english, 2009

34

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

Schrauwen, Isabelle, Szelinger, Szabolcs, Siniard, Ashley L., Kurdoglu, Ahmet, Corneveaux, Jason J., Malenica, Ivana, Richholt, Ryan, Van Camp, Guy, De Both, Matt, Swaminathan, Shanker, Turk, Mari, Ra

Journal:

Year:

2015

Language:

english

File:

PDF, 1.53 MB

english, 2015

35

De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness

Schrauwen, Isabelle, Kari, Elina, Mattox, Jacob, Llaci, Lorida, Smeeton, Joanna, Naymik, Marcus, Raible, David W., Knowles, James A., Crump, J. Gage, Huentelman, Matthew J., Friedman, Rick A.

Journal:

Year:

2018

Language:

english

File:

PDF, 2.05 MB

english, 2018

36

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Schrauwen, Isabelle, Valgaeren, Hanne, Tomas-Roca, Laura, Sommen, Manou, Altunoglu, Umut, Wesdorp, Mieke, Beyens, Matthias, Fransen, Erik, Nasir, Abdul, Vandeweyer, Geert, Schepers, Anne, Rahmoun, Mal

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 815 KB

english, 2018

37

Front Cover, Volume 41, Issue 2

McCullough, Carmel G., Szelinger, Szabolcs, Belnap, Newell, Ramsey, Keri, Schrauwen, Isabelle, Claasen, Ana M., Burke, Leah W., Siniard, Ashley L., Huentelman, Matthew J., Narayanan, Vinodh, Craig, Da

Journal:

Year:

2020

File:

PDF, 1.44 MB

2020

38

A Genome-wide Analysis Identifies Genetic Variants in the RELN Gene Associated with Otosclerosis

Isabelle Schrauwen, Megan Ealy, Matthew J. Huentelman, Melissa Thys, Nils Homer, Kathleen Vanderstraeten, Erik Fransen, Jason J. Corneveaux, David W. Craig, Mireille Claustres, Cor W.R.J. Cremers, Ing

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 656 KB

english, 2009

39

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

Schrauwen, Isabelle, Chakchouk, Imen, Liaqat, Khurram, Jan, Abid, Nasir, Abdul, Hussain, Shabir, Nickerson, Deborah A., Bamshad, Michael J., Ullah, Asmat, Ahmad, Wasim, Leal, Suzanne M.

Journal:

Year:

2018

Language:

english

File:

PDF, 1.90 MB

english, 2018

40

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

Schrauwen, Isabelle, Giese, Arnaud PJ, Aziz, Abdul, Lafont, David Tino, Chakchouk, Imen, Santos-Cortez, Regie Lyn P, Lee, Kwanghyuk, Acharya, Anushree, Khan, Falak Sher, Ullah, Asmat, Nickerson, Debor

Journal:

Journal of Bone and Mineral Research

Year:

2019

File:

PDF, 8.64 MB

2019

41

Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene

Xie, Zhiying, Tang, Liuqin, Xie, Zhihao, Sun, Chengyue, Shuai, Haoyue, Zhou, Chao, Liu, Yilin, Yu, Meng, Zheng, Yiming, Meng, Lingchao, Zhang, Wei, Leal, Suzanne M., Wang, Zhaoxia, Schrauwen, Isabelle

Journal:

Year:

2020

File:

PDF, 945 KB

2020

42

A new locus for otosclerosis,OTSC8, maps to the pericentromeric region of chromosome 9

Insaf Bel Hadj Ali, Melissa Thys, Najeh Beltaief, Isabelle Schrauwen, Nele Hilgert, Kathleen Vanderstraeten, Nele Dieltjens, Emna Mnif, Slah Hachicha, Ghazi Besbes, Saïda Ben Arab, Guy Van Camp

Journal:

Year:

2008

Language:

english

File:

PDF, 310 KB

english, 2008

43

Genetic variants in theRELNgene are associated with otosclerosis in multiple European populations

Isabelle Schrauwen, Megan Ealy, Erik Fransen, Kathleen Vanderstraeten, Melissa Thys, Nicole C. Meyer, Marcel Cosgarea, Alex Huber, Manuela Mazzoli, Markus Pfister, Richard J. H. Smith, Guy Van Camp

Journal:

Year:

2010

Language:

english

File:

PDF, 370 KB

english, 2010

44

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

Schrauwen, Isabelle, Sommen, Manou, Corneveaux, Jason J., Reiman, Rebecca A., Hackett, Nicole J., Claes, Charlotte, Claes, Kathleen, Bitner-Glindzicz, Maria, Coucke, Paul, Van Camp, Guy, Huentelman, M

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 148 KB

english, 2013

45

Autosomal Recessive Stickler Syndrome in Two Families Is Caused by Mutations in the COL9A1 Gene

Nikopoulos, Konstantinos, Schrauwen, Isabelle, Simon, Marleen, Collin, Rob W. J., Veckeneer, Marc, Keymolen, Kathelijn, Van Camp, Guy, Cremers, Frans P. M., van den Born, L. Ingeborgh

Journal:

Investigative Ophthalmology & Visual Science

Year:

2011

Language:

english

File:

PDF, 757 KB

english, 2011

46

Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and mRNA Sequencing

Szelinger, Szabolcs, Malenica, Ivana, Corneveaux, Jason J., Siniard, Ashley L., Kurdoglu, Ahmet A., Ramsey, Keri M., Schrauwen, Isabelle, Trent, Jeffrey M., Narayanan, Vinodh, Huentelman, Matthew J.,

Journal:

Year:

2014

Language:

english

File:

PDF, 1.74 MB

english, 2014

47

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

Latif, Zahid, Chakchouk, Imen, Schrauwen, Isabelle, Lee, Kwanghyuk, Santos-Cortez, Regie Lyn P., Abbe, Izoduwa, Acharya, Anushree, Jarral, Afeefa, Ali, Imran, Ullah, Ehsan, Khan, Muhammad Nasim, Ali,

Journal:

Investigative Opthalmology & Visual Science

Year:

2018

Language:

english

File:

PDF, 502 KB

english, 2018

48

Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease

Piras, Ignazio S., Bleul, Christiane, Schrauwen, Isabelle, Talboom, Joshua, Llaci, Lorida, De Both, Matthew D., Naymik, Marcus A., Halliday, Glenda, Bettencourt, Conceicao, Holton, Janice L., Serrano,

Journal:

Acta Neuropathologica Communications

Year:

2020

File:

PDF, 3.48 MB

2020

49

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations

Kari, Elina, Llaci, Lorida, Go, John L., Naymik, Marcus, Knowles, James A., Leal, Suzanne M., Rangasamy, Sampath, Huentelman, Matthew J., Liang, Winnie, Friedman, Rick A., Schrauwen, Isabelle

Journal:

Year:

2020

File:

PDF, 325 KB

2020

50

Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21

Ali Mosrati, Mohamed, Schrauwen, Isabelle, Ben Saiid, Mariem, Aifa-Hmani, Mounira, Fransen, Erik, Mneja, Malek, Ghorbel, Abdelmonem, Van Camp, Guy, Masmoudi, Saber

Journal:

Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 587 KB

english, 2013

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски