L Basel-Vanagaite: search on Z-Library

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1

Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum

Basel-Vanagaite, Lina, Hershkovitz, Tova, Heyman, Eli, Raspall-Chaure, Miquel, Kakar, Naseebullah, Smirin-Yosef, Pola, Vila-Pueyo, Marta, Kornreich, Liora, Thiele, Holger, Bode, Harald, Lagovsky, Irin

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 810 KB

english, 2013

2

Chromosomal microarray analysis in fetuses with aberrant right subclavian artery

Maya, Idit, Kahana, Sarit, Yeshaya, Josepha, Tenne, Tamar, Yacobson, Shiri, Agmon-Fishman, Ifaat, Cohen-Vig, Lital, Levi, Alex, Reinstein, Eyal, Basel-Vanagaite, Lina, Sharony, Reuven

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2016

Language:

english

File:

PDF, 950 KB

english, 2016

3

Familial hydrocephalus with normal cognition and distinctive radiological features

Lina Basel-Vanagaite, Annick Raas-Rotchild, Liora Kornreich, Adi Har-Zahav, Josefa Yeshaya, Victoria Latarowski, Israela Lerer, William B. Dobyns, Mordechai Shohat

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 130 KB

english, 2010

4

The impact of the national population carrier screening program on reducing birth rates of patients with spinal muscular atrophy

Aharoni, S., Nevo, Y., Orenstein, N., Basel-Vanagaite, L., Mussaffi, H., Singer, A.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 242 KB

english, 2017

5

Seventeen novel mutations that cause profound biotinidase deficiency

B Wolf, K Jensen, G Hüner, M Demirkol, T Baykal, P Divry, M.-O Rolland, C Perez-Cerdá, M Ugarte, R Straussberg, L Basel-Vanagaite, E.R Baumgartner, T Suormala, S Scholl, A.M Das, S Schweitzer, E Proni

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 79 KB

english, 2002

6

Autosomal dominant isolated question mark ear

Vered Shkalim, Noam Eliaz, Nehama Linder, Paul Merlob, Lina Basel-Vanagaite

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 70 KB

english, 2008

7

Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6

Masotti, Andrea, Uva, Paolo, Davis-Keppen, Laura, Basel-Vanagaite, Lina, Cohen, Lior, Pisaneschi, Elisa, Celluzzi, Antonella, Bencivenga, Paola, Fang, Mingyan, Tian, Mingyu, Xu, Xun, Cappa, Marco, Dal

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 933 KB

english, 2015

8

Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16

Bernard S. Chang, Xianhua Piao, Adria Bodell, Lina Basel-Vanagaite, Rachel Straussberg, William B. Dobyns, Bassam Qasrawi, Robin M. Winter, A. Micheil Innes, Thomas Voit, P. Ellen Grant, A. James Bark

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 350 KB

english, 2003

9

Clinical and Brain Imaging Heterogeneity of Severe Microcephaly

Lina Basel-Vanagaite, William B. Dobyns

Journal:

Pediatric Neurology

Year:

2010

Language:

english

File:

PDF, 361 KB

english, 2010

10

Genotype-phenotype correlation in 22q11.2 deletion syndrome

Elena Michaelovsky, Amos Frisch, Miri Carmel, Miriam Patya, Omer Zarchi, Tamar Green, Lina Basel-Vanagaite, Abraham Weizman, Doron Gothelf

Journal:

BMC Medical Genetics

Year:

2012

Language:

english

File:

PDF, 522 KB

english, 2012

11

Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis

Eskin-Schwartz, M, Basel-Vanagaite, L, David, M, Lagovsky, I, Ben-Amitai, D, Smirin-Yosef, P, Atzmony, L, Hodak, E

Journal:

Acta Dermato Venereologica

Year:

2016

Language:

english

File:

PDF, 857 KB

english, 2016

12

Genetics of autosomal recessive non-syndromic mental retardation: recent advances

L Basel-Vanagaite

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 114 KB

english, 2007

13

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

Ganeshwaran H. Mochida, Muhammad Mahajnah, Anthony D. Hill, Lina Basel-Vanagaite, Danielle Gleason, R. Sean Hill, Adria Bodell, Moira Crosier, Rachel Straussberg, Christopher A. Walsh

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.01 MB

english, 2009

14

Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome

Piras, Roberta, Chiappe, Francesca, Torraca, Ilaria La, Buers, Insa, Usala, Gianluca, Angius, Andrea, Akin, Mustafa Ali, Basel-Vanagaite, Lina, Benedicenti, Francesco, Chiodin, Elisabetta, El Assy, Os

Journal:

Year:

2014

Language:

english

File:

PDF, 308 KB

english, 2014

15

Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22

Cohen, Rony, Basel-Vanagaite, Lina, Goldberg-Stern, Hadassah, Halevy, Ayelet, Shuper, Avinoam, Feingold-Zadok, Michal, Behar, Doron M., Straussberg, Rachel

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 565 KB

english, 2014

16

Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?

Lina Basel-Vanagaite, Mordechai Shohat, Yevgenia Udler, Boaz Karmazin, Orly Levit, Paul Merlob

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 148 KB

english, 2002

17

Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A

Cohen, Rony, Halevy, Ayelet, Aharoni, Sharon, Kraus, Dror, Konen, Osnat, Basel-Vanagaite, Lina, Goldberg–Stern, Hadassa, Straussberg, Rachel

Journal:

Year:

2016

Language:

english

File:

PDF, 841 KB

english, 2016

18

Acute lymphoblastic leukemia in Weaver syndrome

Lina Basel-Vanagaite

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 126 KB

english, 2010

19

High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel

G Borck, L Rainshtein, S Hellman-Aharony, AE Volk, K Friedrich, E Taub, N Magal, M Kanaan, C Kubisch, M Shohat, L Basel-Vanagaite

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 609 KB

english, 2012

20

Rapid Development of Post-radiotherapy Sarcoma and Breast Cancer in a Patient with a Novel Germline ‘De-Novo’ TP53 Mutation

A. Salmon, D. Amikam, N. Sodha, S. Davidson, L. Basel-Vanagaite, R.A. Eeles, D. Abeliovich, T. Peretz

Journal:

Clinical Oncology

Year:

2007

Language:

english

File:

PDF, 68 KB

english, 2007

21

An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures

Straussberg, R., Basel-Vanagaite, L., Kivity, S., Dabby, R., Cirak, S., Nurnberg, P., Voit, T., Mahajnah, M., Inbar, D., Saifi, G. M.

Journal:

Year:

2005

Language:

english

File:

PDF, 147 KB

english, 2005

22

An Emerging 1q21.1 Deletion-Associated Neurodevelopmental Phenotype

Basel-Vanagaite, L., Goldberg-Stern, H., Mimouni-Bloch, A., Shkalim, V., Bohm, D., Kohlhase, J.

Journal:

Journal of Child Neurology

Year:

2011

Language:

english

File:

PDF, 147 KB

english, 2011

23

Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype

Balasubramanian, M., Smith, K., Basel-Vanagaite, L., Feingold, M. F., Brock, P., Gowans, G. C., Vasudevan, P. C., Cresswell, L., Taylor, E. J., Harris, C. J., Friedman, N., Moran, R., Feret, H., Zacka

Journal:

Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 566 KB

english, 2011

24

Phenotypic psychiatric characterization of children with Williams syndrome and response of those with ADHD to methylphenidate treatment

Tamar Green, Sarit Avda, Inbar Dotan, Omer Zarchi, Lina Basel-Vanagaite, Gil Zalsman, Abraham Weizman, Doron Gothelf

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2012

Language:

english

File:

PDF, 153 KB

english, 2012

25

Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

Lina Basel-Vanagaite, Revital Attia, Akemi Ishida-Yamamoto, Limor Rainshtein, Dan Ben Amitai, Raziel Lurie, Metsada Pasmanik-Chor, Margarita Indelman, Alex Zvulunov, Shirley Saban, Nurit Magal, Eli Sp

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.62 MB

english, 2007

26

Familial Cognitive Impairment With Ataxia With Oculomotor Apraxia

Mahajnah, M., Basel-Vanagaite, L., Inbar, D., Kornreich, L., Weitz, R., Straussberg, R.

Journal:

Journal of Child Neurology

Year:

2005

Language:

english

File:

PDF, 418 KB

english, 2005

27

Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis

Basel-Vanagaite, L., Wolf, L., Orin, M., Larizza, L., Gervasini, C., Krantz, I.D., Deardoff, M.A.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1.10 MB

english, 2016

28

A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis

Smirin-Yosef, Pola, Zuckerman-Levin, Nehama, Tzur, Shay, Granot, Yaron, Cohen, Lior, Sachsenweger, Juliane, Borck, Guntram, Lagovsky, Irina, Salmon-Divon, Mali, Wiesmüller, Lisa, Basel-Vanagaite, Lina

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2016

Language:

english

File:

PDF, 950 KB

english, 2016

29

A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family

Eytan, O., Sarig, O., Israeli, S., Mevorah, B., Basel-Vanagaite, L., Sprecher, E.

Journal:

Clinical and Experimental Dermatology

Year:

2014

Language:

english

File:

PDF, 265 KB

english, 2014

30

Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation

Straussberg, Rachel, Ganelin-Cohen, Esther, Goldberg-Stern, Hadassah, Tzur, Shay, Behar, Doron M., Smirin-Yosef, Pola, Salmon-Divon, Mali, Basel-Vanagaite, Lina

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 337 KB

english, 2015

31

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Hucthagowder, V., Morava, E., Kornak, U., Lefeber, D. J., Fischer, B., Dimopoulou, A., Aldinger, A., Choi, J., Davis, E. C., Abuelo, D. N., Adamowicz, M., Al-Aama, J., Basel-Vanagaite, L., Fernandez,

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 825 KB

english, 2009

32

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

Lieve Claes, Berten Ceulemans, Dominique Audenaert, Katrien Smets, Ann Löfgren, Jurgen Del-Favero, Sirpa Ala-Mello, Lina Basel-Vanagaite, Barbara Plecko, Salmo Raskin, Paul Thiry, Nicole I. Wolf, Chri

Journal:

Year:

2003

Language:

english

File:

PDF, 141 KB

english, 2003

33

Corrigendum to “X-linked elliptocytosis with impaired growth is related to mutated AMMECR1” [Gene 606C (2017) 47–52]

Basel-Vanagaite, Lina, Pillar, Nir, Isakov, Ofer, Smirin-Yosef, Pola, Lagovsky, Irina, Orenstein, Naama, Salmon-Divon, Mali, Tamary, Hannah, Zaft, Tami, Bazak, Lily, Meyerovitch, Joseph, Pelli, Tal, B

Journal:

Year:

2017

Language:

english

File:

PDF, 93 KB

english, 2017

34

Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype

L Avrahami, S Maas, M Pasmanik-Chor, L Rainshtein, N Magal, JHS Smitt, J Van Marle, M Shohat, L Basel-Vanagaite

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 366 KB

english, 2008

35

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

Van Maldergem, L., Yuksel-Apak, M., Kayserili, H., Seemanova, E., Giurgea, S., Basel-Vanagaite, L., Leao-Teles, E., Vigneron, J., Foulon, M., Greally, M., Jaeken, J., Mundlos, S., Dobyns, W. B.

Journal:

Year:

2008

Language:

english

File:

PDF, 798 KB

english, 2008

36

Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome

Lina Basel-Vanagaite, Limor Rainshtein, Dov Inbar, Doron Gothelf, Raoul Hennekam, Rachel Straussberg

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 96 KB

english, 2007

37

Yunis–Varon syndrome: Further delineation of the phenotype

Lina Basel-Vanagaite, Liora Kornreich, Ofer Schiller, Joanne Yacobovich, Paul Merlob

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 108 KB

english, 2008

38

Amniotic trisomy 11 mosaicism—is it a benign finding?

Lina Basel-Vanagaite, Bella Davidov, Jane Friedman, Yosefa Yeshaya, Nurit Magal, Valerie Drasinover, Mordechai Shohat

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 61 KB

english, 2006

39

Psychiatric morbidity with focus on obsessive–compulsive disorder in an Israeli cohort of adolescents with mild to moderate mental retardation

Doron Gothelf, Olga Goraly, Sari Avni, Mike Stawski, Inbar Hartmann, Lina Basel-Vanagaite, Alan Apter

Journal:

Journal of Neural Transmission

Year:

2008

Language:

english

File:

PDF, 184 KB

english, 2008

40

Expanding the phenotypic spectrum of L1CAM-associated disease

L Basel-Vanagaite, R Straussberg, MJ Friez, D Inbar, L Korenreich, M Shohat, CE Schwartz

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 2.18 MB

english, 2006

41

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

Basel-Vanagaite, L

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 2.52 MB

english, 2005

42

Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity

Basel-Vanagaite, L

Journal:

Journal of Medical Genetics

Year:

2003

Language:

english

File:

PDF, 426 KB

english, 2003

43

Familial Cognitive Impairment With Ataxia With Oculomotor Apraxia

Mahajnah, M., Basel-Vanagaite, L., Inbar, D., Kornreich, L., Weitz, R., Straussberg, R.

Journal:

Journal of Child Neurology

Year:

2005

Language:

english

File:

PDF, 162 KB

english, 2005

44

A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis

Mimouni-Bloch, Aviva, Yeshaya, Josepha, Kahana, Sarit, Maya, Idit, Basel-Vanagaite, Lina

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 527 KB

english, 2015

45

X-linked mental retardation with alacrima and achalasia—Triple A syndrome or a new syndrome?

Daphna Marom, Adi Albin, Charles Schwartz, Adi Har-Zahav, Rachel Straussberg, Frank Bartel, Efrat Birk, Dov Inbar, Lina Basel-Vanagaite

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 144 KB

english, 2011

46

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel

Basel-Vanagaite, Lina, Taub, Ellen, Halpern, Gabrielle J, Drasinover, Valerie, Magal, Nurit, Davidov, Bella, Zlotogora, Joël, Shohat, Mordechai

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 70 KB

english, 2006

47

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelicUBE3Bmutations

Basel-Vanagaite, Lina, Yilmaz, Rüstem, Tang, Sha, Reuter, Miriam S., Rahner, Nils, Grange, Dorothy K., Mortenson, Megan, Koty, Patrick, Feenstra, Heather, Farwell Gonzalez, Kelly D., Sticht, Heinrich,

Journal:

Year:

2014

Language:

english

File:

PDF, 319 KB

english, 2014

48

HomozygousMED25mutation implicated in eye–intellectual disability syndrome

Basel-Vanagaite, Lina, Smirin-Yosef, Pola, Essakow, Jenna Lee, Tzur, Shay, Lagovsky, Irina, Maya, Idit, Pasmanik-Chor, Metsada, Yeheskel, Adva, Konen, Osnat, Orenstein, Naama, Weisz Hubshman, Monika,

Journal:

Year:

2015

Language:

english

File:

PDF, 1.91 MB

english, 2015

49

Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel

Hagit Toledano-Alhadef, Lina Basel-Vanagaite, Nurit Magal, Bella Davidov, Sophie Ehrlich, Valerie Drasinover, Ellen Taub, Gabrielle J. Halpern, Nathan Ginott, Mordechai Shohat

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 326 KB

english, 2001

50

Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency

de Vries, Liat, Behar, Doron M., Smirin-Yosef, Pola, Lagovsky, Irina, Tzur, Shay, Basel-Vanagaite, Lina

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2014

Language:

english

File:

PDF, 214 KB

english, 2014

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