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1

Population screening in a Druze community: the challenge and the reward

Falik-Zaccai, Tzipora C, Kfir, Nechama, Frenkel, Pnina, Cohen, Cindy, Tanus, Mary, Mandel, Hanna, Shihab, Shihab, Morkos, Siman, Aaref, Salameh, Summar, Marshall L, Khayat, Morad

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 492 KB

english, 2008

2

Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision

Häberle, Johannes, Burlina, Alberto, Chakrapani, Anupam, Dixon, Marjorie, Karall, Daniela, Lindner, Martin, Mandel, Hanna, Martinelli, Diego, Pintos‐Morell, Guillem, Santer, René, Skouma, Anastasia, S

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 2.22 MB

english, 2019

3

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy

Zehavi, Yoav, Mandel, Hanna, Zehavi, Arie, Rashid, Muhammad Abu, Straussberg, Rachel, Jabur, Banan, Shaag, Avraham, Elpeleg, Orly, Spiegel, Ronen

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.19 MB

english, 2017

4

Cardiopulmonary exercise test to quantify enzyme replacement response in pediatric Pompe disease

Bar-Yoseph, Ronen, Mandel, Hanna, Mainzer, Gur, Gur, Michal, Tal, Galit, Shalloufeh, George, Bentur, Lea

Journal:

Pediatric Pulmonology

Year:

2018

Language:

english

File:

PDF, 242 KB

english, 2018

5

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

Zhang, Shen-Ying, Clark, Nathaniel E., Freije, Catherine A., Pauwels, Elodie, Taggart, Allison J., Okada, Satoshi, Mandel, Hanna, Garcia, Paula, Ciancanelli, Michael J., Biran, Anat, Lafaille, Fabien

Journal:

Year:

2018

Language:

english

File:

PDF, 5.86 MB

english, 2018

6

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews

Shaag, Avraham, Saada, Ann, Berger, Itai, Mandel, Hanna, Joseph, Adina, Feigenbaum, Annette, Elpeleg, Orly N.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 371 KB

english, 1999

7

C7 complement deficiency in an Israeli Arab village

Doron Behar, Menachem Schlesinger, David Halle, Haim Ben-Ami, Yehouda Edoute, Eduardo Shahar, Imad Kasis, Shihab Shihab, Deborah Elstein, Ari Zimran, Hanna Mandel

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 110 KB

english, 2002

8

Towards rapid parameter estimation on gravitational waves from compact binaries using interpolated waveforms

Smith, R. J. E., Cannon, K., Hanna, C., Keppel, D., Mandel, I.

Journal:

Physical Review D

Year:

2013

Language:

english

File:

PDF, 1.82 MB

english, 2013

9

TMEM70 deficiency: long-term outcome of 48 patients

Magner, Martin, Dvorakova, Veronika, Tesarova, Marketa, Mazurova, Stella, Hansikova, Hana, Zahorec, Martin, Brennerova, Katarina, Bzduch, Vladimir, Spiegel, Ronen, Horovitz, Yoseph, Mandel, Hanna, Emi

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 512 KB

english, 2015

10

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

Magner, Martin, Dvorakova, Veronika, Tesarova, Marketa, Mazurova, Stella, Hansikova, Hana, Zahorec, Martin, Brennerova, Katarina, Bzduch, Vladimir, Spiegel, Ronen, Horovitz, Yoseph, Mandel, Hanna, Emi

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 80 KB

english, 2015

11

MICROFLUIDIC SPERM SORTING VS. DENSITY GRADIENT: A PRELIMINARY ANALYSIS EXAMINING EMBRYO GRADE AND PREGNANCY OUTCOMES IN IVF-ICSI CYCLES USING VARYING SPERM SELECTION METHODS

Pavlovic, Zoran J., Sax, Megan R., Tawa, Alex, Grimm, Lauren, Raptis, Nepheli I., Anderson, Jessi, Radley, Emma, Mandell, Hanna, Oso, Christy, Beltsos, Angeline, Jeelani, Roohi

Journal:

Fertility and Sterility

Year:

2020

File:

PDF, 141 KB

2020

12

THE ROLE OF GENETICS IN HYPERANDROGENIC PCOS: WHAT'S THE BIG, HAIRY DEAL?

Radley, Emma, Raptis, Nepheli I., Mandell, Hanna, Oso, Christy, Grimm, Lauren, Anderson, Jessi, Pavlovic, Zoran J., Beltsos, Angeline, Jeelani, Roohi

Journal:

Fertility and Sterility

Year:

2020

File:

PDF, 112 KB

2020

13

Interstitial deletion (6)q13q15

Gershoni-Baruch, Ruth, Mandel, Hanna, Bar El, Hanna, Bar-Nizan, Noga, Borochowitz, Zvi, Dar, Hanna

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 310 KB

english, 1996

14

Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli–Arab mutations

Shigeo Kure, Marie-Odile Rolland, Jaako Leisti, Hanna Mandel, Yoshiyuki Sakata, Keiya Tada, Yoichi Matsubara, Kuniaki Narisawa

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 124 KB

english, 1999

15

Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers

Adel Shalata, Hanna Mandel, Claude Dorche, Marie-Therese Zabot, Stavit Shalev, Yasir Hugeirat, Drugan Arieh, Zamir Ronit, Jochen Reiss, Yefim Anbinder, Nadine Cohen

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 124 KB

english, 2000

16

The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families

Tal Raz, Valentina Labay, Dana Baron, Raymonde Szargel, Yefim Anbinder, Tim Barrett, Wolfgang Rabl, Marcos B. Viana, Hanna Mandel, Andre Baruchel, Jean-Michel Cayuela, Nadine Cohen

Journal:

Year:

2000

Language:

english

File:

PDF, 244 KB

english, 2000

17

Homocystinuria in the Arab population of Israel: Identification of two novel mutations using DGGE analysis

Galia Gat-Yablonski, Hanna Mandel, Brian Fowler, Omar Taleb, Ben-Ami Sela

Journal:

Year:

2000

Language:

english

File:

PDF, 46 KB

english, 2000

18

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

Jan Loeffen, Orly Elpeleg, Jan Smeitink, Roel Smeets, Sylvia Stöckler-Ipsiroglu, Hanna Mandel, Rob Sengers, Frans Trijbels, Lambert Van Den Heuvel

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 1.56 MB

english, 2001

19

Walker-warburg syndrome with microtia and absent auditory canals

Dr. Ruth Gershoni-Baruch, Hanna Mandel, Benjamin Miller, Polo Sujov, Jacob Braun

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 602 KB

english, 1990

20

Congenital muscular dystrophy with neurological abnormalities: Association with Hirschsprung disease

Hanna Mandel, Riva Brik, Ruth Ludatscher, Jacob Braun, Moshe Berant

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 582 KB

english, 1993

21

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

Tzipora C. Falik-Zaccai, Morad Khayat, Anthony Luder, Pnina Frenkel, Daniella Magen, Riva Brik, Ruth Gershoni-Baruch, Hanna Mandel

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2010

Language:

english

File:

PDF, 357 KB

english, 2010

22

A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA

Jan-Willem Taanman, Ihab Kateeb, Ania C. Muntau, Michaela Jaksch, Nadine Cohen, Hanna Mandel

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 2.70 MB

english, 2002

23

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

Ronen Spiegel, Avraham Shaag, Simon Edvardson, Hanna Mandel, Polina Stepensky, Stavit A. Shalev, Yoseph Horovitz, Ophry Pines, Orly Elpeleg

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 709 KB

english, 2009

24

Peroxisome mosaicism in the livers of peroxisomal deficiency patients

Marc Espeel, Hanna Mandel, Florence Poggi, Jan A. M. Smeitink, Ronald J. A. Wanders, Ingrid Kerckaert, Rudolf B. H. Schutgens, Jean-Marie Saudubray, Bwee-Tien Poll-The, Frank Roels

Journal:

Year:

1995

Language:

english

File:

PDF, 1.22 MB

english, 1995

25

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism

Jeannette Gootjes, Frank Schmohl, Petra A.W. Mooijer, Conny Dekker, Hanna Mandel, Meral Topcu, Martina Huemer, M. von Schütz, Thorsten Marquardt, Jan A. Smeitink, Hans R. Waterham, Ronald J.A. Wanders

Journal:

Year:

2004

Language:

english

File:

PDF, 428 KB

english, 2004

26

Activated protein C resistance can be associated with recurrent fetal loss

Benjamin Brenner, Hanna Mandel, Naomi Lanir, Johnny Younis, Haim Rothbart, Gonen Ohel, Zeev Blumenfeld

Journal:

British Journal of Haematology

Year:

1997

Language:

english

File:

PDF, 276 KB

english, 1997

27

Measurement of 3-hydroxy-3-methylglutaryl-CoA lyase activity in amniotic cells and in chorionic villi

Varda Barash, Orly Elpeleg, Ruth Sheffer, Hanna Mandel, Ronald J. A. Wanders

Journal:

Prenatal Diagnosis

Year:

1988

Language:

english

File:

PDF, 87 KB

english, 1988

28

DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency

Rikke K. J. Olsen, Brage S. Andresen, Ernst Christensen, Hanna Mandel, Flemming Skovby, Jens Peter Nielsen, Inga Knudsen, Christine Vianey-Saban, Henrik Simonsen, Niels Gregersen

Journal:

Prenatal Diagnosis

Year:

2005

Language:

english

File:

PDF, 126 KB

english, 2005

29

Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia

Marwan Shinawi, Catherine Boileau, Riva Brik, Hanna Mandel, Lea Bentur

Journal:

Pediatric Pulmonology

Year:

2005

Language:

english

File:

PDF, 124 KB

english, 2005

30

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans

Orly Elpeleg, Hanna Mandel, Ann Saada

Journal:

Journal of Molecular Medicine

Year:

2002

Language:

english

File:

PDF, 85 KB

english, 2002

31

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia

S. Kure, Hanna Mandel, Marie-Odile Rolland, Yoshiyuki Sakata, Toshikatsu Shinka, Aryeb Drugan, Avihu Boneh, Keiya Tada, Yoichi Matsubara, Kuniaki Narisawa

Journal:

Year:

1998

Language:

english

File:

PDF, 131 KB

english, 1998

32

Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity

T. Raz, Tim Barrett, Raymonde Szargel, Hanna Mandel, Ellis J. Neufeld, Kazuto Nosaka, Marcos B. Viana, N. Cohen

Journal:

Year:

1998

Language:

english

File:

PDF, 158 KB

english, 1998

33

Impaired Cholesterol Synthesis Rate in Fibroblasts and Reduced Cellular Uptake of LDLs Derived from Peroxisome-deficient Patients Cause Cellular Cholesterol Deficiency in Peroxisome-deficient Fibroblasts

HANNA MANDEL, MIRIAM GETSIS, MIRA ROSENBLAT, MOSHE BERANT, MICHAEL AVIRAM

Journal:

Annals of the New York Academy of Sciences

Year:

1996

Language:

english

File:

PDF, 170 KB

english, 1996

34

10.1038/10372

Cohen, Nadine, Labay, Valentina, Raz, Tal, Baron, Dana, Mandel, Hanna, Williams, Hawys, Barrett, Timothy, Szargel, Raymonde, McDonald, Louise, Shalata, Adel, Nosaka, Kazuto, Gregory, Simon

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 384 KB

english, 1999

35

10.1038/1706

Reiss, Jochen, Cohen, Nadine, Dorche, Claude, Mandel, Hanna, Mendel, Ralf R., Stallmeyer, Birgit, Zabot, Marie-Therese, Dierks, Thomas

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 211 KB

english, 1998

36

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

Spiegel, Ronen, Shaag, Avraham, Mandel, Hanna, Reich, Dan, Penyakov, Marina, Hujeirat, Yasir, Saada, Ann, Elpeleg, Orly, Shalev, Stavit A

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 99 KB

english, 2009

37

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia

Tanner, Stephan M., Aminoff, Maria, Wright, Fred A., Liyanarachchi, Sandya, Kuronen, Mervi, Saarinen, Anne, Massika, Orit, Mandel, Hanna, Broch, Harald, de la Chapelle, Albert

Journal:

Nature Genetics

Year:

2003

Language:

english

File:

PDF, 160 KB

english, 2003

38

10.1038/ng751

Saada, Ann, Shaag, Avraham, Mandel, Hanna, Nevo, Yoram, Eriksson, Staffan, Elpeleg, Orly

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 499 KB

english, 2001

39

10.1038/ng746

Mandel, Hanna, Szargel, Raymonde, Labay, Valentina, Elpeleg, Orly, Saada, Ann, Shalata, Adel, Anbinder, Yefim, Berkowitz, Drora, Hartman, Corina, Barak, Mila, Eriksson, Staffan, Cohen, Nadine

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 1.68 MB

english, 2001

40

The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies

Hanna Mandel, Corina Hartman, Drora Berkowitz, Orli N. Elpeleg, Irena Manov, Theodore C. Iancu

Journal:

Year:

2001

Language:

english

File:

PDF, 1.07 MB

english, 2001

41

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, Olga Karicheva, Hanna Mandel, Noa Ofek, Reeval Segel, Daphna Marom, Agnes Rötig, Ivan Tarassov, Orly Elpe

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 979 KB

english, 2009

42

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, Olga Karicheva, Hanna Mandel, Noa Ofek, Reeval Segel, Daphna Marom, Agnes Rötig, Ivan Tarassov, Orly Elpe

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 25 KB

english, 2010

43

Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex

Rami Kaufmann, Rachel Straussberg, Hanna Mandel, Aviva Fattal-Valevski, Bruria Ben-Zeev, Adi Naamati, Avraham Shaag, Shamir Zenvirt, Osnat Konen, Aviva Mimouni-Bloch, William B. Dobyns, Simon Edvardso

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 327 KB

english, 2010

44

A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome

Adi Mory, Efrat Dagan, Barbara Illi, Philippe Duquesnoy, Shikma Mordechai, Ishai Shahor, Sveva Romani, Nivin Hawash-Moustafa, Hanna Mandel, Enza M. Valente, Serge Amselem, Ruth Gershoni-Baruch

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 661 KB

english, 2012

45

Treatment Outcome of Pompe Disease Infants with Negative Cross-Reactive Immunologic Material From Israel and Gaza

Hanna Mandel, Deeksha Bali, Priya S. Kishnani, Gad Bar-Joseph, Avraham Lorber, Asaad Khoury, Dalia Natan, Dan J. Eldad, Marsha Zeigler, Dan Bercovich, Horachio Plotkin, Eli Herskovitz

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 84 KB

english, 2011

46

Familial leukoencephalopathy with slowly progressive dystonia and ataxia

Lubov Blumkin, Hanna Mandel, Marieta Anca-Herschkovitsch, Sara Kivity, Dorit Lev, Tally Lerman-Sagie

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 276 KB

english, 2009

47

‘Sick’, irritable infant with fever, vomiting, bloody stool and abdominal distention (Discussion and Diagnosis)

Larisa Epov, Isaac Srugo, Imad Kassis, Gad Bar-Joseph, Hanna Mandel, Amir Kugelman

Journal:

Acta Paediatrica

Year:

2010

Language:

english

File:

PDF, 83 KB

english, 2010

48

‘Sick’, irritable infant with fever, vomiting, bloody stool and abdominal distention (Case Presentation)

Larisa Epov, Isaac Srugo, Imad Kassis, Gad Bar-Joseph, Hanna Mandel, Amir Kugelman

Journal:

Acta Paediatrica

Year:

2010

Language:

english

File:

PDF, 70 KB

english, 2010

49

Hyperpigmentation and hypotonia in a 3-month-old infant (Discussion and Diagnosis)

Vered Nir, Hanna Mandel, Iass Kassem, Adi Klein-Kremer

Journal:

Acta Paediatrica

Year:

2011

Language:

english

File:

PDF, 76 KB

english, 2011

50

Hyperpigmentation and hypotonia in a 3-month-old infant (Case Presentation)

Vered Nir, Hanna Mandel, Iass Kassem, Adi Klein-Kremer

Journal:

Acta Paediatrica

Year:

2011

Language:

english

File:

PDF, 120 KB

english, 2011