S. Savarirayan: search on Z-Library

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1

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome

Dr. S.M. White, E.M. Thompson, A. Kidd, R. Savarirayan, A. Turner, D. Amor, M.B. Delatycki, M. Fahey, A. Baxendale, S. White, E. Haan, K. Gibson, J.L. Halliday, A. Bankier

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 229 KB

english, 2004

2

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome

Tiong Yang Tan, Agnes Bankier, Howard R. Slater, Emma L. Northrop, Margaret Zacharin, Ravi Savarirayan

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 151 KB

english, 2005

3

Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned

Duong, Bich-Thu, Savarirayan, Ravi, Winship, Ingrid

Journal:

Familial Cancer

Year:

2016

Language:

english

File:

PDF, 868 KB

english, 2016

4

Nosology and classification of genetic skeletal disorders: 2015 revision

Bonafe, Luisa, Cormier-Daire, Valerie, Hall, Christine, Lachman, Ralph, Mortier, Geert, Mundlos, Stefan, Nishimura, Gen, Sangiorgi, Luca, Savarirayan, Ravi, Sillence, David, Spranger, Jürgen, Superti-

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 134 KB

english, 2015

5

High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study

Fredwall, Svein O., Steen, Unni, de Vries, Olga, Rustad, Cecilie F., EggesbÃ¸, Heidi Beate, Weedon-FekjÃ¦r, Harald, Lidal, Ingeborg B., Savarirayan, Ravi, MÃ¥num, Grethe

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 1.11 MB

2020

6

Osteopetrosis

Zornitza Stark, Ravi Savarirayan

Journal:

Orphanet Journal of Rare Diseases

Year:

2009

Language:

english

File:

PDF, 2.86 MB

english, 2009

7

Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin?

Damseh, Nadirah, Stimec, Jennifer, O’Brien, Alan, Marshall, Christian, Savarirayan, Ravi, Jawad, Ali, Laxer, Ronald, Kannu, Peter

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 1.06 MB

english, 2019

8

Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study

Fredwall, Svein O., Steen, Unni, de Vries, Olga, Rustad, Cecilie F., EggesbÃ¸, Heidi Beate, Weedon-FekjÃ¦r, Harald, Lidal, Ingeborg B., Savarirayan, Ravi, MÃ¥num, Grethe

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 564 KB

2020

9

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

Valentine J. Hyland, Stephen P. Robertson, Simon Flanagan, Ravi Savarirayan, Tony Roscioli, John Masel, Mark Hayes, Ian A. Glass

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 513 KB

english, 2003

10

Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis

Peter Kannu, John F. Bateman, Daniele Belluoccio, Amanda J. Fosang, Ravi Savarirayan

Journal:

Arthritis & Rheumatism

Year:

2009

Language:

english

File:

PDF, 96 KB

english, 2009

11

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

Tan, T Y, Aftimos, S, Worgan, L, Susman, R, Wilson, M, Ghedia, S, Kirk, E P, Love, D, Ronan, A, Darmanian, A, Slavotinek, A, Hogue, J, Moeschler, J B, Ozmore, J, Widmer, R, Savarirayan, R, Peters, G

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 620 KB

english, 2009

12

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Garbes, Lutz, Kim, Kyungho, Rieß, Angelika, Hoyer-Kuhn, Heike, Beleggia, Filippo, Bevot, Andrea, Kim, Mi Jeong, Huh, Yang Hoon, Kweon, Hee-Seok, Savarirayan, Ravi, Amor, David, Kakadia, Purvi M., Lind

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.25 MB

english, 2015

13

Response to ten Berg and Lindhout

Gardner, R. J. M., Savarirayan, R., Coleman, L. T., Suthers, G. K., Sheffield, L. J.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 63 KB

english, 2002

14

Primary trabeculodysgenesis in association with neonatal Marfan syndrome

Charlotte M. Whitelaw, Samira Anwar, Lesley C. Adès, Glen A. Gole, James E. Elder, Ravi Savarirayan

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 167 KB

english, 2004

15

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families

Ravi Savarirayan, Susan M. White, Frances R. Goodman, John M. Graham Jr., Martin B. Delatycki, Ralph S. Lachman, David L. Rimoin, David B. Everman, Matthew L. Warman

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 252 KB

english, 2003

16

Common phenotype and etiology in warfarin embryopathy and X-linked chondrodysplasia punctata (CDPX)

Ravi Savarirayan

Journal:

Pediatric Radiology

Year:

1999

Language:

english

File:

PDF, 21 KB

english, 1999

17

Neurodevelopmental functioning of infants with untreated single-suture craniosynostosis during early infancy

Costa, Annette C., Anderson, Vicki A., Savarirayan, Ravi, Wrennall, Jacquie A., Chong, David K., Holmes, Anthony D., Greensmith, Andrew L., Meara, John G.

Journal:

Child's Nervous System

Year:

2012

Language:

english

File:

PDF, 373 KB

english, 2012

18

The effect of height, weight and head circumference on gross motor development in achondroplasia

Ireland, Penelope Jane, Ware, Robert S, Donaghey, Samantha, McGill, James, Zankl, Andreas, Pacey, Verity, Ault, Jenny, Savarirayan, Ravi, Sillence, David, Thompson, Elizabeth, Townshend, Sharron, John

Journal:

Journal of Paediatrics and Child Health

Year:

2013

Language:

english

File:

PDF, 269 KB

english, 2013

19

Human HLA-DQβ chain presents minor lymphocyte stimulating locus gene products and clonally deletes TCR Vβ6+, Vβ8.1+ T cells in single transgenic mice

Zhou, Paul, Anderson, Gary D., Savarirayan, Suresh, Inoko, Hidetoshi, David, Chella S.

Journal:

Human Immunology

Year:

1991

Language:

english

File:

PDF, 1.31 MB

english, 1991

20

A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect

McKay, Michael J., Craig, Jeffery, Kalitsis, Paul, Kozlov, Sergei, Verschoor, Sandra, Chen, Phillip, Lobachevsky, Pavel, Vasireddy, Raja, Yan, Yuqian, Ryan, Jacinta, McGillivray, George, Savarirayan,

Journal:

International Journal of Radiation Oncology*Biology*Physics

Year:

2018

File:

PDF, 1.95 MB

2018

21

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia

John F. Bateman, Richard Wilson, Susanna Freddi, Shireen R. Lamandé, Ravi Savarirayan

Journal:

Year:

2005

Language:

english

File:

PDF, 318 KB

english, 2005

22

Prenatal cortical hyperostosis (Caffey disease)

Ravi Savarirayan, Valérie Cormier-Daire, David J. Amor, William R. Wilcox, Ralph S. Lachman, David L. Rimoin

Journal:

Pediatric Radiology

Year:

2002

Language:

english

File:

PDF, 38 KB

english, 2002

23

Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease

Ana Campos-Xavier, Jorge M. Saraiva, Ravi Savarirayan, Alain Verloes, Josué Feingold, Laurence Faivre, Arnold Munnich, Martine Le Merrer, Valérie Cormier-Daire

Journal:

Year:

2001

Language:

english

File:

PDF, 92 KB

english, 2001

24

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring

Stark, Zornitza, Storen, Rebecca, Bennetts, Bruce, Savarirayan, Ravi, Jamieson, Robyn V

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 286 KB

english, 2011

25

EXPRESSION AND FUNCTION OF HLA-DQ8 (DQA10301/DQB10302) GENES IN TRANSGENIC MICE

S. Cheng, J. Baisch, C. Krco, S. Savarirayan, J. Hanson, K. Hodgson, M. Smart, C. David

Journal:

International Journal of Immunogenetics

Year:

1996

Language:

english

File:

PDF, 314 KB

english, 1996

26

Effect of Perindopril on Large Artery Stiffness and Aortic Root Diameter in Patients With Marfan Syndrome

Ahimastos, Anna A., Aggarwal, Anuradha, D’Orsa, Kellie M., Formosa, Melissa F., White, Anthony J., Savarirayan, Ravi, Dart, Anthony M., Kingwell, Bronwyn A.

Journal:

JAMA The Journal of the American Medical Association

Year:

2007

Language:

english

File:

PDF, 239 KB

english, 2007

27

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

Flottmann, R., Wagner, J., Kobus, K., Curry, C. J., Savarirayan, R., Nishimura, G., Yasui, N., Spranger, J., Van Esch, H., Lyons, M. J., DuPont, B. R., Dwivedi, A., Klopocki, E., Horn, D., Mundlos, S.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.55 MB

english, 2015

28

SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia

Stark, Zornitza, Behrsin, Joanna, Burgess, Trent, Ritchie, Anna, Yeung, Alison, Tan, Tiong Y., Brown, Natasha J., Savarirayan, Ravi, Patel, Neil

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.85 MB

english, 2015

29

SUN-093 Prospective Clinical Assessment Study in Children with Achondroplasia: The PROPEL Trial

Savarirayan, Ravi, Kannu, Peter, Dambkowski, Carl L, Rogoff, Daniela, Irving, Melita

Journal:

Journal of the Endocrine Society

Year:

2020

File:

PDF, 112 KB

2020

30

Familial digital arthropathy-brachydactyly

David J. Amor, Coral Tudball, R.J. McKinlay Gardner, Shireen R. Lamandé, John F. Bateman, Ravi Savarirayan

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 219 KB

english, 2002

31

IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development

C.C. Pedreira, R. Savarirayan, Margaret R. Zacharin

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 166 KB

english, 2004

32

Perindopril Reduces Large Artery Stiffness and Aortic Root Diameter in Patients with Marfan Syndrome

A. Ahimastos, A. Aggarwal, K. D’Orsa, M. Formosa, R. Savarirayan, A. Dart, B. Kingwell

Journal:

Heart Lung & Circulation

Year:

2007

Language:

english

File:

PDF, 76 KB

english, 2007

33

Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.

Savarirayan, R, Bankier, A

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 831 KB

english, 1998

34

Spondyloepimetaphyseal dysplasia with multiple joint dislocations

Unger, S, Savarirayan, R, Cormier-Daire, V, Cohn, D, Wilcox, W, Lachman, R S, Rimoin, D L

Journal:

Genetics in Medicine

Year:

2000

Language:

english

File:

PDF, 127 KB

english, 2000

35

Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition

White, S.M., Ad??s, L.C., Amor, D., Liebelt, J., Bankier, A., Baker, E., Wilson, M., Savarirayan, R.

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 209 KB

english, 2003

36

Emerging targeted drug therapies in skeletal dysplasias

Yap, Patrick, Savarirayan, Ravi

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 293 KB

english, 2016

37

Current knowledge of medical complications in adults with achondroplasia: a scoping review

Fredwall, Svein O., Maanum, Grethe, Johansen, Heidi, Snekkevik, Hildegun, Savarirayan, Ravi, Lidal, Ingeborg B.

Journal:

Clinical Genetics

Year:

2019

File:

PDF, 2.39 MB

2019

38

A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

Yeung, Alison, Tan, Natalie B., Tan, Tiong Y., Stark, Zornitza, Brown, Natasha, Hunter, Matthew F., Delatycki, Martin, Stutterd, Chloe, Savarirayan, Ravi, Mcgillivray, George, Stapleton, Rachel, Kumbl

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 317 KB

2020

39

An autosomal dominant or X-linked osteodysplastic disorder with severe cervical involvement

Robertson, Stephen P., Dickens, Robert, Savarirayan, Ravi, Rogers, John G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 345 KB

english, 1999

40

“Baby rattle” pelvis dysplasia

Valérie Cormier-Daire, Ravi Savarirayan, Ralph S. Lachman, Julie A. Neidich, Kim Grace, David L. Rimoin, William R. Wilcox

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 660 KB

english, 2001

41

Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: Further evidence that collagen X NC1 mutations impair trimer assembly

John F. Bateman, Susanna Freddi, Robyn McNeil, Elizabeth Thompson, Pia Hermanns, Ravi Savarirayan, Shireen R. Lamandé

Journal:

Year:

2004

Language:

english

File:

PDF, 11.87 MB

english, 2004

42

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation

Delphine Trochet, Yves Mathieu, Loïc de Pontual, Ravi Savarirayan, Arnold Munnich, Jean-François Brunet, Stanislas Lyonnet, Christo Goridis, Jeanne Amiel

Journal:

Year:

2009

Language:

english

File:

PDF, 550 KB

english, 2009

43

Two Novel COL2A1 Mutations Associated with a Legg-Calvé-Perthes Disease-like Presentation

Peter Kannu, Melita Irving, Salim Aftimos, Ravi Savarirayan

Journal:

Clinical Orthopaedics and Related Research®

Year:

2011

Language:

english

File:

PDF, 260 KB

english, 2011

44

Baller-Gerold syndrome associated with congenital portal venous malformation.

Savarirayan, R, Tomlinson, P, Thompson, E

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 831 KB

english, 1998

45

Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?

Janssens, Katrien, Thompson, Elizabeth, Vanhoenacker, Filip, Savarirayan, Ravi, Morris, Lloyd, Dobbie, Angus, Van Hul, Wim

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 209 KB

english, 2003

46

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

Souzeau, Emmanuelle, Burdon, Kathryn P., Mackey, David A., Hewitt, Alex W., Savarirayan, Ravi, Otlowski, Margaret, Craig, Jamie E.

Journal:

Translational Vision Science & Technology

Year:

2016

Language:

english

File:

PDF, 444 KB

english, 2016

47

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit

Tan, Natalie B, Tan, Tiong Yang, Martyn, Melissa M, Savarirayan, Ravi, Amor, David J, Moody, Amanda, White, Susan M, Stark, Zornitza

Journal:

Journal of Paediatrics and Child Health

Year:

2019

Language:

english

File:

PDF, 749 KB

english, 2019

48

Current knowledge of medical complications in adults with achondroplasia: a scoping review

Fredwall, Svein O., Maanum, Grethe, Johansen, Heidi, Snekkevik, Hildegun, Savarirayan, Ravi, Lidal, Ingeborg B.

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 2.39 MB

english, 2019

49

Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy

SAVARIRAYAN, R.

Journal:

Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 705 KB

english, 2000

50

Are Duane syndrome and infantile esotropia allelic?

Connell, Benjamin, Wilkinson, Robin, Barbour, Julie, Scotter, Lindsey, Poulsen, Johan, Wirth, M., Essex, Rohan, Savarirayan, Ravi, Mackey, David

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 87 KB

english, 2004

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