L. Basel-Vanagaite: search on Z-Library

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1

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

2

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

3

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

4

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

5

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

6

An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome

Ebun Aganna, Avraham Zeharia, Graham A. Hitman, Lina Basel-Vanagaite, Rebecca A. Allotey, David R. Booth, Philip N. Hawkins, Catherine Thacker, Denise Syndercombe-Court, Michael F. McDermott

Journal:

Arthritis & Rheumatism

Year:

2002

Language:

english

File:

PDF, 101 KB

english, 2002

7

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

8

New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death

Lina Basel-Vanagaite, Nufar Marcus, Gil Klinger, Mordechai Shohat, Orly Levit, Boaz Karmazin, Ellen Taub, Lea Sirota

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 292 KB

english, 2003

9

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

10

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

11

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

12

Isolated familial posterior earlobe indentations

Sara Fischlowitz, Paul Merlob, Lina Basel-Vanagaite

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 104 KB

english, 2009

13

Keppen–Lubinsky syndrome: Expanding the phenotype

Lina Basel-Vanagaite, Lisa Shaffer, David Chitayat

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 98 KB

english, 2009

14

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

15

Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?

Vered Shkalim, Liat Ben-Sira, Dov Inbar, Walid Kaadan, Lina Basel-Vanagaite, Rachel Straussberg

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 154 KB

english, 2011

16

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

17

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

18

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

19

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

Lina Basel-Vanagaite, Liora Muncher, Rachel Straussberg, Metsada Pasmanik-Chor, Michal Yahav, Limor Rainshtein, Christopher A. Walsh, Nurit Magal, Ellen Taub, Valerie Drasinover, Hanna Shalev, Revital

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 759 KB

english, 2006

20

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

21

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

22

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

23

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

24

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

25

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

26

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

27

New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies

Lina Basel-Vanagaite, Eli Sprecher, Andrea Gat, Paul Merlob, Adi Albin-Kaplanski, Osnat Konen, Benjamin D. Solomon, Maximilian Muenke, Karl-H. Grzeschik, Lea Sirota

Journal:

Pediatric Dermatology

Year:

2012

Language:

english

File:

PDF, 345 KB

english, 2012

28

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

29

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease

Basel-Vanagaite, Lina, Pelet, Anna, Steiner, Zvi, Munnich, Arnold, Rozenbach, Yoram, Shohat, Mordechai, Lyonnet, Stanislas

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 78 KB

english, 2006

30

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

Lina Basel-Vanagaite, Ofer Sarig, Dov Hershkovitz, Dana Fuchs-Telem, Debora Rapaport, Andrea Gat, Gila Isman, Idit Shirazi, Mordechai Shohat, Claes D. Enk, Efrat Birk, Jürgen Kohlhase, Uta Matysiak-Sc

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.23 MB

english, 2009

31

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

32

Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

Yu Sun, Rowida Almomani, Emmelien Aten, Jacopo Celli, Jaap van der Heijden, Hanka Venselaar, Stephen P. Robertson, Anna Baroncini, Brunella Franco, Lina Basel-Vanagaite, Emiko Horii, Ricardo Drut, Yav

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 689 KB

english, 2010

33

Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1

Lina Basel-Vanagaite, Noam Zevit, Adi Har Zahav, Liang Guo, Saj Parathath, Metsada Pasmanik-Chor, Adam D. McIntyre, Jian Wang, Adi Albin-Kaplanski, Corina Hartman, Daphna Marom, Avraham Zeharia, Abir

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.35 MB

english, 2012

34

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus

Volney L Sheen, Lina Basel-Vanagaite, Jean R Goodman, Ingrid E Scheffer, Adria Bodell, Vijay S Ganesh, Robert Ravenscroft, Robert S Hill, Timothy J Cherry, Yin Y Shugart, James Barkovich, Rachel Strau

Journal:

Brain and Development

Year:

2004

Language:

english

File:

PDF, 382 KB

english, 2004

35

A Comparative Study of Hearing Loss in Two Microdeletion Syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) Syndromes

Omer Zarchi, Josef Attias, Eyal Raveh, Lina Basel-Vanagaite, Liron Saporta, Doron Gothelf

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 265 KB

english, 2011

36

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

37

EM.P.2.04 Unraveling the genetic complexity of alpha-dystroglycanopathies: Ethnically diverse pathogenic mutations

M.C. Manzini, D. Gleason, B.S. Chang, R.S. Hill, J.N. Partlow, B.J. Barry, A. Poduri, L. Basel-Vanagaite, M.Z. Seidhamed, M.A.M. Salih, W.B. Dobyns, C.A. Walsh

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

38

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

39

Microcephaly-Thin Corpus Callosum Syndrome Maps to 8q23.2-q24.12

Ayelet Halevy, Lina Basel-Vanagaite, Avinoam Shuper, Shlomit Helman, Adi Har-Zahav, Efrat Birk, Idit Maya, Liora Kornreich, Dov Inbar, Gudrun Nürnberg, Peter Nürnberg, Tamar Steinberg, Rachel Straussb

Journal:

Pediatric Neurology

Year:

2012

Language:

english

File:

PDF, 849 KB

english, 2012

40

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

41

An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21

Xianhua Piao, Lina Basel-Vanagaite, Rachel Straussberg, P. Ellen Grant, Elizabeth W. Pugh, Kim Doheny, Betty Doan, Susan E. Hong, Yin Yao Shugart, Christopher A. Walsh

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 723 KB

english, 2002

42

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

43

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

44

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Lina Basel-Vanagaite, Bruno Dallapiccola, Ramiro Ramirez-Solis, Alexandra Segref, Holger Thiele, Andrew Edwards, Mark J. Arends, Xavier Miró, Jacqueline K. White, Julie Désir, Marc Abramowicz, Maria L

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.05 MB

english, 2012

45

826 Mutated Gpd1, Encoding Glycerol-3-Phosphate Dehydrogenase 1, Causes Transient Infantile Hypertriglyceridemia With Fatty Liver and Hepatic Fibrosis

Lina Basel-Vanagaite, Noam Zevit, Adi Har Zahav, Saj Parathath, Liang Guo, Metsada Pasmanik-Chor, Adam D. McIntyre, Jian Wang, Adi Albin-Kaplanski, Corina Haartman, Daphna Marom, Amos J. Simon, Gideon

Journal:

Gastroenterology

Year:

2012

Language:

english

File:

PDF, 72 KB

english, 2012

46

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

47

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

48

Genetic Carrier Screening for Spinal Muscular Atrophy and Spinal Muscular Atrophy with Respiratory Distress 1 in an Isolated Population in Israel

Basel-Vanagaite, Lina, Taub, Ellen, Drasinover, Valerie, Magal, Nurit, Brudner, Alona, Zlotogora, Joel, Shohat, Mordechai

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 142 KB

english, 2008

49

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

50

Mutations in PIK3R1 Cause SHORT Syndrome

Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilb

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.04 MB

english, 2013