I. Kelberman: search on Z-Library

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1

An integrative dance class to improve physical function of people with developmental and intellectual disabilities: a feasibility study

DiPasquale, Sarah, Kelberman, Caroline

Journal:

Year:

2018

Language:

english

File:

PDF, 1.24 MB

english, 2018

2

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

D. Kelberman, J. Tyson, D. Chandler, A. McInerney, J. Slee, D. Albert, A. Aymat, M. Botma, M. Calvert, J. Goldblatt, E. Haan, N. Laing, J. Lim, S. Malcolm, S. Singer, R. Winter, M. Bitner-Glindzicz

Journal:

Year:

2001

Language:

english

File:

PDF, 130 KB

english, 2001

3

Subsyndromal Manifestations of Depression in Children Predict the Development of Major Depression

Uchida, Mai, Fitzgerald, Maura, Woodworth, Hilary, Carrellas, Nicholas, Kelberman, Caroline, Biederman, Joseph

Journal:

The Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 674 KB

english, 2018

4

Can the CANTAB identify adults with attention-deficit/hyperactivity disorder? A controlled study

Fried, Ronna, DiSalvo, Maura, Kelberman, Caroline, Biederman, Joseph

Journal:

Applied Neuropsychology: Adult

Year:

2019

Language:

english

File:

PDF, 983 KB

english, 2019

5

Absence of SIX3 mutations in patients with congenital hypopituitarism

Carles Gaston-Massuet, Daniel Kelberman, Mehul Dattani, Juan Pedro Martinez-Barbera

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 74 KB

english, 2009

6

Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld-rieger disease severity

Daniel Kelberman, Lily Islam, Susan E. Holder, Thomas S. Jacques, Patrick Calvas, Raoul C. Hennekam, Ken K. Nischal, Jane C. Sowden

Journal:

Year:

2011

Language:

english

File:

PDF, 408 KB

english, 2011

7

SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours

Kyriaki S. Alatzoglou, Cynthia L. Andoniadou, Daniel Kelberman, Charles R. Buchanan, John Crolla, Maria Cristina Arriazu, Martin Roubicek, Daniel Moncet, Juan P. Martinez-Barbera, Mehul T. Dattani

Journal:

Year:

2011

Language:

english

File:

PDF, 247 KB

english, 2011

8

FH-Pyrgos: a novel mutation in the promoter (−45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia

GVZ Dedoussis, C Pitsavos, D Kelberman, J Skoumas, ME Prassa, DM Choumerianou, C Stefanadis, SE Humphries, P Toutouzas

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 348 KB

english, 2003

9

Meiotic chromosomes in a female with primary trisomic Down's syndrome

Paul Polani, John Dewhurst, Ian Fergusson, Jennifer Kelberman

Journal:

Year:

1982

Language:

english

File:

PDF, 440 KB

english, 1982

10

Genetics of septo-optic dysplasia

Daniel Kelberman, Mehul Tulsidas Dattani

Journal:

Year:

2007

Language:

english

File:

PDF, 342 KB

english, 2007

11

Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD)

D. Kelberman, J. P. G. Turton, K. S. Woods, A. Mehta, M. Al-Khawari, J. Greening, P. G. F. Swift, T. Otonkoski, S. J. Rhodes, M. T. Dattani

Journal:

Clinical Endocrinology

Year:

2009

Language:

english

File:

PDF, 215 KB

english, 2009

12

Novel IL-6 haplotypes and disease association

Fife, M S, Ogilvie, E M, Kelberman, D, Samuel, J, Gutierrez, A, Humphries, S E, Woo, P

Journal:

Genes and Immunity

Year:

2005

Language:

english

File:

PDF, 82 KB

english, 2005

13

X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

Tom R. Webb, Mar Matarin, Jessica C. Gardner, Dan Kelberman, Hala Hassan, Wei Ang, Michel Michaelides, Jonathan B. Ruddle, Craig E. Pennell, Seyhan Yazar, Chiea C. Khor, Tin Aung, Mahinda Yogarajah, A

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.25 MB

english, 2012

14

Science or Fiction: Use of Nesiritide as a First-Line Agent?

Dr. John A. Noviasky, Dr. Michael Kelberman, Ms. Karen M. Whalen, Dr. Roy Guharoy, Dr. William Darko

Journal:

Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy

Year:

2003

Language:

english

File:

PDF, 87 KB

english, 2003

15

SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development

Kelberman, D., de Castro, S. C. P., Huang, S., Crolla, J. A., Palmer, R., Gregory, J. W., Taylor, D., Cavallo, L., Faienza, M. F., Fischetto, R.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2008

Language:

english

File:

PDF, 559 KB

english, 2008

16

Hypopituitarism Oddities: Congenital Causes

Kelberman, Daniel, Dattani, Mehul T.

Journal:

Hormone Research

Year:

2007

Language:

english

File:

PDF, 185 KB

english, 2007

17

Genetic Regulation of Pituitary Gland Development in Human and Mouse

Kelberman, D., Rizzoti, K., Lovell-Badge, R., Robinson, I. C. A. F., Dattani, M. T.

Journal:

Endocrine Reviews

Year:

2009

Language:

english

File:

PDF, 504 KB

english, 2009

18

Analysis of common IL-6 promoter SNP variants and the AnTn tract in humans and primates and effects on plasma IL-6 levels following coronary artery bypass graft surgery

Daniel Kelberman, Mark Fife, Matthew V. Rockman, David J. Brull, Patricia Woo, Steve E. Humphries

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2004

Language:

english

File:

PDF, 479 KB

english, 2004

19

Identification of a novel regulatory region in the interleukin-6 gene promoter

J.M. Samuel, D. Kelberman, A.J.P. Smith, S.E. Humphries, P. Woo

Journal:

Year:

2008

Language:

english

File:

PDF, 609 KB

english, 2008

20

CYP1B1-Related Anterior Segment Developmental Anomalies: Novel Mutations for Infantile Glaucoma and Von Hippel's Ulcer Revisited

Daniel Kelberman, Lily Islam, Thomas S. Jacques, Isabelle Russell-Eggitt, Maria Bitner-Glindzicz, Peng T. Khaw, Ken K. Nischal, Jane C. Sowden

Journal:

Year:

2011

Language:

english

File:

PDF, 1.74 MB

english, 2011

21

Effect of Interleukin-6 promoter polymorphisms in survivors of myocardial infarction and matched controls in the North and South of Europe (the HIFMECH Study)

Kelberman, Daniel, Hawe, E, Luong, LA, Mohamed-Ali, Vidya, Lundman, Pia, Tornvall, Per, Aillaud, MF, Juhan-Vague, Irène, Yudkin, John S., Margaglione, Maurizio, di Minno, Giovanni, Tremoli, Elena, Hum

Journal:

Thrombosis and Haemostasis

Year:

2004

Language:

english

File:

PDF, 196 KB

english, 2004

22

Endoscopic retrieval of a concealed parcel (ERCP)

Thomas D. Schiano, Ira Kelberman

Journal:

Gastrointestinal Endoscopy

Year:

1996

Language:

english

File:

PDF, 111 KB

english, 1996

23

Routine iron stain is inadequate for identifying colonic mucosa at risk for colonic neoplasia

I. Kelberman, K.A. McGlynn, R. Thomas

Journal:

Gastrointestinal Endoscopy

Year:

1997

Language:

english

File:

PDF, 136 KB

english, 1997

24

Does cyclin gene methylation in normal sigmoid colon predict the presence of colonic neoplasia?

I Kelberman, PP Claudio, D. Trate, E Haig, A Giordano

Journal:

Gastroenterology

Year:

1995

Language:

english

File:

PDF, 127 KB

english, 1995

25

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency

Macchiaroli, Annamaria, Kelberman, Daniel, Auriemma, Renata Simona, Drury, Suzanne, Islam, Lily, Giangiobbe, Sara, Ironi, Gabriele, Lench, Nicholas, Sowden, Jane C., Colao, Annamaria, Pivonello, Rosar

Journal:

Year:

2014

Language:

english

File:

PDF, 466 KB

english, 2014

26

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Kelberman, D., Islam, L., Lakowski, J., Bacchelli, C., Chanudet, E., Lescai, F., Patel, A., Stupka, E., Buck, A., Wolf, S., Beales, P. L., Jacques, T. S., Bitner-Glindzicz, M., Liasis, A., Lehmann, O.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 2.48 MB

english, 2014

27

Hypothalamic and pituitary development: novel insights into the aetiology

Kelberman, D., Dattani, M. T.

Journal:

European Journal of Endocrinology

Year:

2007

Language:

english

File:

PDF, 198 KB

english, 2007

28

The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism

Kelberman, Daniel, Dattani, Mehul T.

Journal:

Annals of Medicine

Year:

2006

Language:

english

File:

PDF, 435 KB

english, 2006

29

The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism

Gregory, L.C., Gaston-Massuet, C., Andoniadou, C.L., Carreno, G., Webb, E.A., Kelberman, D., McCabe, M.J., Panagiotakopoulos, L., Saldanha, J.W., Spoudeas, H.A., Torpiano, J., Rossi, M., Raine, J., Ca

Journal:

Clinical Endocrinology

Year:

2015

Language:

english

File:

PDF, 994 KB

english, 2015

30

Septo-Optic Dysplasia – Novel Insights into the Aetiology

Kelberman, Daniel, Dattani, Mehul Tulsidas

Journal:

Hormone Research

Year:

2008

Language:

english

File:

PDF, 267 KB

english, 2008

31

Laparoscopic Resection of Gastric Leiomyosarcoma

DEMPSEY, DANIEL T., KELBERMAN, IRA A., DABEZIES, MARTA A.

Journal:

Journal of Laparoendoscopic & Advanced Surgical Techniques

Year:

1997

Language:

english

File:

PDF, 5.95 MB

english, 1997

32

Functional Analysis of FOXE3 Mutations Causing Dominant and Recessive Ocular Anterior Segment Disease

Islam, Lily, Kelberman, Daniel, Williamson, Laura, Lewis, Nicola, Glindzicz, Maria Bitner, Nischal, Ken K., Sowden, Jane C.

Journal:

Year:

2015

Language:

english

File:

PDF, 450 KB

english, 2015

33

Effect of fiber and its fermentation on colonic adaptation after cecal resection in the rat

Kelberman, I, Cheetham, B., Rosenthal, J, Levine, G.

Journal:

Journal of Parenteral and Enteral Nutrition

Year:

1995

Language:

english

File:

PDF, 711 KB

english, 1995

34

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

Prasov, L., Masud, T., Khaliq, S., Mehdi, S. Q., Abid, A., Oliver, E. R., Silva, E. D., Lewanda, A., Brodsky, M. C., Borchert, M., Kelberman, D., Sowden, J. C., Dattani, M. T., Glaser, T.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 525 KB

english, 2012

35

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

Journal:

Journal of Clinical Investigation

Year:

2006

Language:

english

File:

PDF, 1.09 MB

english, 2006

36

HESX1 Mutations Are an Uncommon Cause of Septooptic Dysplasia and Hypopituitarism

McNay, David E. G., Turton, James P., Kelberman, Daniel, Woods, Kathryn S., Brauner, Raja, Papadimitriou, Anastasios, Keller, Eberhard, Keller, Alexandra, Haufs, Nele, Krude, Heiko, Shalet, Stephen M.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2007

Language:

english

File:

PDF, 266 KB

english, 2007

37

Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain

Andoniadou, C. L., Signore, M., Sajedi, E., Gaston-Massuet, C., Kelberman, D., Burns, A. J., Itasaki, N., Dattani, M., Martinez-Barbera, J. P.

Journal:

Development (The Company of Biologists)

Year:

2007

Language:

english

File:

PDF, 2.74 MB

english, 2007

38

The role of SOX proteins in normal pituitary development

Alatzoglou, K. S, Kelberman, D., Dattani, M. T

Journal:

Journal of Endocrinology

Year:

2008

Language:

english

File:

PDF, 375 KB

english, 2008

39

Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency

K. S. Alatzoglou, J. P. Turton, D. Kelberman, P. E. Clayton, A. Mehta, C. Buchanan, S. Aylwin, E. C. Crowne, H. T. Christesen, N. T. Hertel, P. J. Trainer, M. O. Savage, J. Raza, K. Banerjee, S. K. Si

Year:

2009

Language:

english

File:

PDF, 109 KB

english, 2009

40

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

Webb, E. A., AlMutair, A., Kelberman, D., Bacchelli, C., Chanudet, E., Lescai, F., Andoniadou, C. L., Banyan, A., Alsawaid, A., Alrifai, M. T., Alahmesh, M. A., Balwi, M., Mousavy-Gharavy, S. N., Luko

Journal:

Year:

2013

Language:

english

File:

PDF, 1.17 MB

english, 2013

41

Mutation in the TBCE Gene Is Associated with Hypoparathyroidism-Retardation-Dysmorphism Syndrome Featuring Pituitary Hormone Deficiencies and Hypoplasia of the Anterior Pituitary and the Corpus Callosum

Padidela, Raja, Kelberman, Dan, Press, Martin, Al-Khawari, M., Hindmarsh, Peter C., Dattani, Mehul T.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2009

Language:

english

File:

PDF, 121 KB

english, 2009

42

Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1 ) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal Function

Lin, Lin, Philibert, Pascal, Ferraz-de-Souza, Bruno, Kelberman, Daniel, Homfray, Tessa, Albanese, Assunta, Molini, Veruska, Sebire, Neil J., Einaudi, Silvia, Conway, Gerard S., Hughes, Ieuan A., James

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2007

Language:

english

File:

PDF, 657 KB

english, 2007

43

Increased Transactivation Associated with SOX 3 Polyalanine Tract Deletion in a Patient with Hypopituitarism

Alatzoglou, Kyriaki S., Kelberman, Daniel, Cowell, Christopher T., Palmer, Rodger, Arnhold, Ivo J. P., Melo, Maria E., Schnabel, Dirk, Grueters, Annette, Dattani, Mehul T.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2011

Language:

english

File:

PDF, 542 KB

english, 2011

44

The Role of SOX2 in Hypogonadotropic Hypogonadism

Tziaferi, V., Kelberman, D., Dattani, M.T.

Journal:

Sexual Development

Year:

2008

Language:

english

File:

PDF, 133 KB

english, 2008

45

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

Sajedi, E., Gaston-Massuet, C., Signore, M., Andoniadou, C. L., Kelberman, D., Castro, S., Etchevers, H. C., Gerrelli, D., Dattani, M. T., Martinez-Barbera, J. P.

Journal:

Disease Models & Mechanisms

Year:

2008

Language:

english

File:

PDF, 10.61 MB

english, 2008

46

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

Sajedi, E., Gaston-Massuet, C., Signore, M., Andoniadou, C. L., Kelberman, D., Castro, S., Etchevers, H. C., Gerrelli, D., Dattani, M. T., Martinez-Barbera, J. P.

Journal:

Disease Models & Mechanisms

Year:

2008

Language:

english

File:

PDF, 10.61 MB

english, 2008

47

New Pharmacological Approaches to Treating Non-Motor Symptoms of Parkinson’s Disease

Kelberman, Michael A., Vazey, Elena M.

Journal:

Current Pharmacology Reports

Year:

2016

Language:

english

File:

PDF, 387 KB

english, 2016

48

Chromosome abnormalities and the genetics of congenital corneal opacification.

Mataftsi, a, Islam, L, Kelberman, D, Sowden, J C, Nischal, K K

Journal:

Molecular vision

Year:

2011

Language:

english

File:

PDF, 948 KB

english, 2011

49

Gastrointestinal effects of NSAIDs

Pearson, Starr P., Kelberman, Ira

Journal:

Postgraduate Medicine

Year:

1996

Language:

english

File:

PDF, 775 KB

english, 1996

50

THREE-YEAR OUTCOMES IN ‘REAL-WORLD’ PATIENTS TREATED WITH A THIN-STRUT, PLATINUM-CHROMIUM, EVEROLIMUS-ELUTING STENT IN THE PROMUS ELEMENT PLUS U.S. POST-APPROVAL STUDY (PE-PLUS PAS)

Kandzari, David E., Chambers, Jeffrey, Efstratiadis, Stilianos, Wolff, Matthew, Lin, Steve, White, Anthony, McIntyre, Stephen, Kelberman, Michael, Berg, William, Moak, Alan, Dube, Sandeep, Christen, T

Journal:

Journal of the American College of Cardiology

Year:

2017

Language:

english

File:

PDF, 349 KB

english, 2017