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1

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT

Israela Lerer, Michal Sagi, Esther Malamud, Haya Levi, Annick Raas-Rothschild, Dvorah Abeliovich

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 79 KB

english, 2000

2

Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease

Schreyer-Shafir, Nira, Sukenik-Halevy, Rivka, Tepper, Ronnie, Arnon, Schmuel, Litmanovitch, Itta, Eliakim, Alon, Pommeranz, Avishalom, Ludman, Mark David, Raas-Rothschild, Annick

Journal:

Prenatal Diagnosis

Year:

2014

Language:

english

File:

PDF, 181 KB

english, 2014

3

Subcutaneous Fat Necrosis with Thrombocytopenia in a Newborn Infant

Wolach, B., Raas-Rothschild, A., Vogel, R., Choc, L., Metzker, A.

Journal:

Year:

1990

Language:

english

File:

PDF, 317 KB

english, 1990

4

Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities

Raas-Rothschild, A., Nir, A., Ergaz, Z., Bar Ziv, J., Rein, A.J.J.T.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 144 KB

english, 1999

5

Giant congenital aortic aneurysm with cleft sternum, supraumbilical raph�, and hemangiomatosis: Report and review

Raas-Rothschild, A., Nir, A., Gillis, R., Rein, A.J.J.T.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 270 KB

english, 2000

6

Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III

Michael Nadjari, Sozos J. Fasouliotis, Ilana Ariel, Annick Raas-Rothschild, Jacob Bar-Ziv, Uriel Elchalal

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 132 KB

english, 2000

7

Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome

Annick Raas-Rothschild, Eyal Shteyer, Israela Lerer, Amiram Nir, Esther Granot, Azaria J.J.T. Rein

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 140 KB

english, 2002

8

Genetic testing for hearing loss: Different motivations for the same outcome

Orit Dagan, Hagit Hochner, Haya Levi, Annick Raas-Rothschild, Michal Sagi

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 113 KB

english, 2002

9

Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion

Isabelle Korn-Lubetzki, Zohar Argov, Annick Raas-Rothschild, Itzchak Wirguin, Israel Steiner

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 59 KB

english, 2002

10

Megalocornea and mental retardation syndrome

A. Raas-Rothschild, M. Berkenstadt, Dr. R. M. Goodman, John M. Optiz

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 69 KB

english, 1988

11

Cardiovascular abnormalities associated with the Stuve–Wiedemann syndrome

Annick Raas-Rothschild, Zivanit Ergaz-Schaltiel, Jakob Bar-Ziv, Azaria J.J.T. Rein

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 98 KB

english, 2003

12

Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases

Manuela Morleo, Tiziano Pramparo, Lucia Perone, Giuliana Gregato, Cedric Le Caignec, Robert F. Mueller, Tsutomu Ogata, Annick Raas-Rothschild, Marie Christine de Blois, Louise C. Wilson, Gerald Zaidma

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 131 KB

english, 2005

13

Molecular order in mucolipidosis II and III nomenclature

Sara S. Cathey, Mariko Kudo, Stephan Tiede, Annick Raas-Rothschild, Thomas Braulke, Michael Beck, Harold A. Taylor, William M. Canfield, Jules G. Leroy, Elizabeth F. Neufeld, Victor A. McKusick

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 64 KB

english, 2008

14

The clinical spectrum of fetal Niemann–Pick type C

Ronen Spiegel, Annick Raas-Rothschild, Orit Reish, Miriam Regev, Vardiella Meiner, Ruth Bargal, Vivi Sury, Karen Meir, Michel Nadjari, Gratiana Hermann, Theodor C. Iancu, Stavit A. Shalev, Marsha Zeig

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 83 KB

english, 2009

15

Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2)

Einat Granot-Hershkovitz, Annick Raas-Rothschild, Ayala Frumkin, David Granot, Shira Silverstein, Dvorah Abeliovich

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 2.95 MB

english, 2011

16

Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

Ruth Bargal, Nili Avidan, Tzvia Olender, Edna Ben Asher, Marcia Zeigler, Annick Raas-Rothschild, Ayala Frumkin, Omer Ben-Yoseph, Yechiel Friedlender, Doron Lancet, Gideon Bach

Journal:

Year:

2001

Language:

english

File:

PDF, 256 KB

english, 2001

17

Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome

Willy M. Nillesen, Helger G. Yntema, Marco Moscarda, Nienke E. Verbeek, Louise C. Wilson, Frances Cowan, Marga Schepens, Annick Raas-Rothschild, Orly Gafni-Weinstein, Marcella Zollino, Raymon Vijzelaa

Journal:

Year:

2011

Language:

english

File:

PDF, 447 KB

english, 2011

18

A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site

Stephan Tiede, Michael Cantz, Annick Raas-Rothschild, Nicole Muschol, Friederike Bürger, Kurt Ullrich, Thomas Braulke

Journal:

Year:

2004

Language:

english

File:

PDF, 178 KB

english, 2004

19

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

Tamar Shachar, Christophe Lo Bianco, Alessandra Recchia, Christoph Wiessner, Annick Raas-Rothschild, Anthony H. Futerman

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 343 KB

english, 2011

20

Fabry disease prenatal diagnosis

Annick Raas-Rothschild, Didier Lacombe

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 32 KB

english, 2008

21

Mucolipidosis III type C: first-trimester biochemical and molecular prenatal diagnosis

T. C. Falik-Zaccai, M. Zeigler, R. Bargal, G. Bach, Z. Borochowitz, A. Raas-Rothschild

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 98 KB

english, 2003

22

Rhabdomyoma in the Fetus: Illustration of Tumor Growth During the Second Half of Gestation

A. Nir, S. Ekstein, M. Nadjari, A. Raas-Rothschild, A.J.J.T. Rein

Journal:

Pediatric Cardiology

Year:

2001

Language:

english

File:

PDF, 455 KB

english, 2001

23

Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence

Katya Rozovsky, Jacob Sosna, Martine Le Merrer, Natalia Simanovsky, Benjamin Z. Koplewitz, Jacob Bar-Ziv, Valerie Cormier-Daire, Annick Raas-Rothschild

Journal:

Pediatric Radiology

Year:

2011

Language:

english

File:

PDF, 580 KB

english, 2011

24

TATgene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping

G. Maydan, B. S. Andresen, P. P. Madsen, M. Zeigler, A. Raas-Rothschild, A. Zlotogorski, A. Gutman, S. H. Korman

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 313 KB

english, 2006

25

Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study

Perri Segal, Yoav Kohn, Yehuda Pollak, Gheona Altarescu, Esti Galili-Weisstub, Annick Raas-Rothschild

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 205 KB

english, 2010

26

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations

A Ghalamkarpour, S Morlot, A Raas-Rothschild, A Utkus, JB Mulliken, LM Boon, M Vikkula

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 351 KB

english, 2006

27

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

F Molinari, A Kaminska, G Fiermonte, N Boddaert, A Raas-Rothschild, P Plouin, L Palmieri, F Brunelle, F Palmieri, O Dulac, A Munnich, L Colleaux

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 689 KB

english, 2009

28

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity

MF Coutinho, M Encarnação, R Gomes, L da Silva Santos, S Martins, D Sirois-Gagnon, R Bargal, M Filocamo, A Raas-Rothschild, B Tappino, C Laprise, GK Cury, IV Schwartz, O Artigalás, MJ Prata, S Alves

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 635 KB

english, 2011

29

10.1038/79095

Bach, Gideon, Bargal, Ruth, Avidan, Nili, Ben-Asher, Edna, Olender, Zvia, Zeigler, Marcia, Frumkin, Ayala, Raas-Rothschild, Annick, Glusman, Gustavo, Lancet, Doron

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 434 KB

english, 2000

30

Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase

Tiede, Stephan, Storch, Stephan, Lübke, Torben, Henrissat, Bernard, Bargal, Ruth, Raas-Rothschild, Annick, Braulke, Thomas

Journal:

Nature Medicine

Year:

2005

Language:

english

File:

PDF, 269 KB

english, 2005

31

Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population

Raas-Rothschild, Annick, Bargal, Ruth, DellaPergola, Sergio, Zeigler, Marcia, Bach, Gideon

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 42 KB

english, 1999

32

Glycosphingolipidoses: Beyond the enzymatic defect

Annick Raas-Rothschild, Irene Pankova-Kholmyansky, Yaacov Kacher, Anthony H. Futerman

Journal:

Glycoconjugate Journal

Year:

2004

Language:

english

File:

PDF, 109 KB

english, 2004

33

Prenatal ultrasonographic diagnosis of atypical Nonne–Milroy lymphedema

A. Lev-Sagie, Y. Hamani, A. Raas-Rothschild, S. Yagel, E. Y. Anteby

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2003

Language:

english

File:

PDF, 109 KB

english, 2003

34

Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

Ruth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, Martine Le Merrer, Jacob Sosna, Judith Melki, David H. Zangen, Sarah F. Smithson, Zvi Borochowitz, Ruth Belostotsky, Annick Raas-Rothschild

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 690 KB

english, 2009

35

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

Rami Abou Jamra, Orianne Philippe, Annick Raas-Rothschild, Sebastian H. Eck, Elisabeth Graf, Rebecca Buchert, Guntram Borck, Arif Ekici, Felix F. Brockschmidt, Markus M. Nöthen, Arnold Munnich, Tim M.

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 882 KB

english, 2011

36

Fabry Disease and G6PD in Three Family Members with Priapism: Is the Nitric Oxide Pathway to Blame?

Rebecca Backenroth, Ezekiel H. Landau, Miri Goren, Annick Raas-Rothschild

Journal:

The Journal of Sexual Medicine

Year:

2010

Language:

english

File:

PDF, 132 KB

english, 2010

37

Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndrome

B. Wolach, A. Raas-Rothschild, A. Metzker, L. Choc, R. Straussberg, S. Lew, R. M. Goodman

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 453 KB

english, 1990

38

Megalocornea, macrocephaly, mental and motor retardation (MMMM)

M. Frydman, M. Berkenstadt, A. Raas-Rothschild, R. M. Goodman

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 484 KB

english, 1990

39

Gaucher disease type 2 — Homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions

Hagit N. Baris, Annick Raas-Rothschild, Ben-Zion Garty, Ruth Tor, Sarah Klontz, Nahid Tayebi, Ellen Sidransky, Ian J. Cohen

Journal:

Blood Cells, Molecules, and Diseases

Year:

2011

Language:

english

File:

PDF, 123 KB

english, 2011

40

P35S mutation in the NOG gene associated with Teunissen–Cremers syndrome and features of multiple NOG joint-fusion syndromes

Nir Hirshoren, Menachem Gross, Eyal Banin, Jacob Sosna, Ruth Bargal, Annick Raas-Rothschild

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 556 KB

english, 2008

41

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature

Annick Raas-Rothschild, Trijnie Dijkhuizen, Birgit Sikkema-Raddatz, Marion Werner, Judith Dagan, Devorah Abeliovich, Israela Lerer

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 325 KB

english, 2009

42

Angiokeratoma corporis diffusum in human β-mannosidosis: Report of a new case and a novel mutation

Vered Molho-Pessach, Ruth Bargal, Yigal Abramowitz, Victoria Doviner, Arieh Ingber, Annick Raas-Rothschild, Zvi Ne'eman, Marsha Zeigler, Abraham Zlotogorski

Journal:

Journal of the American Academy of Dermatology

Year:

2007

Language:

english

File:

PDF, 523 KB

english, 2007

43

The H syndrome: A genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations

Vered Molho-Pessach, Ziad Agha, Suhail Aamar, Benjamin Glaser, Victoria Doviner, Nurith Hiller, David Haim Zangen, Annick Raas-Rothschild, Ziva Ben-Neriah, Shaher Shweiki, Orly Elpeleg, Abraham Zlotog

Journal:

Journal of the American Academy of Dermatology

Year:

2008

Language:

english

File:

PDF, 581 KB

english, 2008

44

The kidney in Fabry disease

Annick Raas-Rothschild, Michael M. Friedlaender, Galina Pizov, Rebecca Backenroth

Journal:

The Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 164 KB

english, 2005

45

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients

Ruth Bargal, Marsha Zeigler, Bassam Abu-Libdeh, Vivi Zuri, Hanna Mandel, Ziva Ben Neriah, Fiona Stewart, Nursel Elcioglu, Tareq Hindi, Martine Le Merrer, Gideon Bach, Annick Raas-Rothschild

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 192 KB

english, 2006

46

Corrigendum to “When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients” [Mol. Genet. Metab. 88 (2006) 359–363]

Ruth Bargal, Marsha Zeigler, Bassam Abu-Libdeh, Vivi Zuri, Hanna Mandel, Ziva Ben Neriah, Fiona Stewart, Nursel Elcioglu, Tareq Hindi, Martine Le Merrer, Gideon Bach, Annick Raas-Rothschild

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 77 KB

english, 2007

47

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing

Itai Berger, Ziva Ben-Neriah, Talia Dor-Wolman, Avraham Shaag, Ann Saada, Shamir Zenvirt, Annick Raas-Rothschild, Michel Nadjari, Klaus H. Kaestner, Orly Elpeleg

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 402 KB

english, 2011

48

Ambulatory intravenous therapy for chronic suppurative otitis media

A. Raas-Rothschild, R. Lang, A. Schabtai, S. Goshen, I. Berger

Journal:

The Journal of Pediatrics

Year:

1991

Language:

english

File:

PDF, 89 KB

english, 1991

49

Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth disease) with nerve deafness: A new variant

O. Pinhas Hamiel, A. Raas-Rothschild, M. Upadhyaya, M. Frydman, I. Sarova-Pinhas, N. Brand, J.H. Passwell

Journal:

The Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 1.13 MB

english, 1993

50

Pediatrics: implementing the promise of early intervention for fabry disease

Annick Raas-Rothschild

Journal:

Clinical Therapeutics

Year:

2007

Language:

english

File:

PDF, 105 KB

english, 2007