David Rimoin: search on Z-Library

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1

Molecular defects in the chondrodysplasias

Rimoin, David L.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 583 KB

english, 1996

2

Plasma Growth Hormone after Arginine Infusion

Merimee, Thomas J., Rabinowitz, David, Riggs, Lamar, Burgess, John A., Rimoin, David L., McKusick, Victor A.

Journal:

Boston Medical and Surgical Journal

Year:

1967

Language:

english

File:

PDF, 884 KB

english, 1967

3

Fetal Varicella Syndrome

ALKALAY, ARIE L., POMERANCE, JEFFREY J., RIMOIN, DAVID L.

Journal:

Obstetric and Gynecologic Survey

Year:

1988

File:

PDF, 1.45 MB

1988

4

Multiple Cell Origin of Hereditary Neurofibromas

Fialkow, Philip J., Sagebiel, Richard W., Gartler, Stanley M., Rimoin, David L.

Journal:

Boston Medical and Surgical Journal

Year:

1971

File:

PDF, 413 KB

1971

5

The Clinical Spectrum of Lumbar Spine Disease in Achondroplasia

KAHANOVITZ, NEIL, RIMOIN, DAVID L., SILLENCE, DAVID O.

Journal:

Year:

1982

File:

PDF, 378 KB

1982

6

Nosology and classification of genetic skeletal disorders: 2010 revision

Matthew L. Warman, Valerie Cormier-Daire, Christine Hall, Deborah Krakow, Ralph Lachman, Martine LeMerrer, Geert Mortier, Stefan Mundlos, Gen Nishimura, David L. Rimoin, Stephen Robertson, Ravi Savari

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 180 KB

english, 2011

7

Emery and Rimoin's Principles and Practice of Medical Genetics || Chondrodysplasias

Rimoin, David L.

Year:

2013

Language:

english

File:

PDF, 1.94 MB

english, 2013

8

Desbuquois syndrome: Clinical, radiographic, and morphologic characterization

Mordechai Shohat, Ralph Lachman, Helen E. Gruber, Y. Edward Hsia, Mitchell S. Golbus, David R. Witt, Adria Bodell, Christine R. Bryke, W. Allen Hogge, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 3.16 MB

english, 1994

9

General Tom Thumb and Other Midgets

McKusick, Victor A., Rimoin, David L.

Journal:

Scientific American

Year:

1967

Language:

english

File:

PDF, 734 KB

english, 1967

10

Endochondral Ossification in Achondroplastic Dwarfism

Rimoin, David L., Hughes, Gary N., Kaufman, Robert L., Rosenthal, Ronald E., McAlister, William H., Silberberg, Ruth

Journal:

Boston Medical and Surgical Journal

Year:

1970

Language:

english

File:

PDF, 14.06 MB

english, 1970

11

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia

Danielpour, Moise, Wilcox, William R., Alanay, Yasemin, Pressman, Barry D., Rimoin, David L.

Journal:

Journal of Neurosurgery Pediatrics

Year:

2007

Language:

english

File:

PDF, 162 KB

english, 2007

12

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study

Reinstein, Eyal, Pariani, Mitchel, Bannykh, Serguei, Rimoin, David L, Schievink, Wouter I

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 226 KB

english, 2013

13

Visceroptosis of the bowel in the hypermobility type of Ehlers–Danlos syndrome: Presentation of a rare manifestation and review of the literature

Reinstein, Eyal, Pimentel, Mark, Pariani, Mitchel, Nemec, Stephen, Sokol, Thomas, Rimoin, David L.

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 442 KB

english, 2012

14

The Skeletal Dysplasias : Clinical–Molecular Correlations

DAVID L. RIMOIN, DANIEL COHN, DEBORAH KRAKOW, WILLIAM WILCOX, RALPH S. LACHMAN, YASEMIN ALANAY

Journal:

Annals of the New York Academy of Sciences

Year:

2007

Language:

english

File:

PDF, 67 KB

english, 2007

15

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series

Mukherjee, Debraj, Pressman, Barry D., Krakow, Deborah, Rimoin, David L., Danielpour, Moise

Journal:

Journal of Neurosurgery Pediatrics

Year:

2014

Language:

english

File:

PDF, 4.64 MB

english, 2014

16

Gracile bone dysplasia

Thomas, Janet A., Rimoin, David L., Lachman, Ralph S., Wilcox, William R.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 413 KB

english, 1998

17

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

Wilcox, William R., Tavormina, Patricia L., Krakow, Deborah, Kitoh, Hiroshi, Lachman, Ralph S., Wasmuth, John J., Thompson, Leslie M., Rimoin, David L.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 554 KB

english, 1998

18

New epiphyseal stippling syndrome with osteoclastic hyperplasia

Mordechai Shohat, Dr. David L. Rimoin, Helen E. Gruber, Ralph Lachman

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 1.31 MB

english, 1993

19

Case report 655

Zipora C. Falik Borenstein, Jerrold Mink, William Oppenheim, David L. Rimoin, Ralph S. Lachman

Journal:

Skeletal Radiology

Year:

1991

Language:

english

File:

PDF, 743 KB

english, 1991

20

MED,COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

Ralph S. Lachman, Deborah Krakow, Daniel H. Cohn, David L. Rimoin

Journal:

Pediatric Radiology

Year:

2005

Language:

english

File:

PDF, 588 KB

english, 2005

21

Genetic linkage of mild pseudoachondroplasia (PSACH) to markersin the pericentromeric region of chromosome 19

Michael D. Briggs, I. Merete Rasmussen, James L. Weber, Juliet Yuen, Kent Reinker, Ann P. Garber, David L. Rimoin, Daniel H. Cohn

Journal:

Year:

1993

Language:

english

File:

PDF, 511 KB

english, 1993

22

Kniest Dysplasia. A Histochemical Study of the Growth Plate

Horton, William A, Rimoin, David L

Journal:

Pediatric Research

Year:

1979

Language:

english

File:

PDF, 457 KB

english, 1979

23

Hand involvement in Schmid metaphyseal chondrodysplasia

Alison M. Elliott, Fiona M. Field, David L. Rimoin, Ralph S. Lachman

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 108 KB

english, 2005

24

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

25

No evidence for linkage between an insulin-dependent diabetes mellitus-susceptibility locus and immunoglobulin loci KM or GM

Dr. L. Leigh Field, Alisa Goldstein, M. Anne Spence, C. E. Anderson, David L. Rimoin, D. C. Rao

Journal:

Genetic Epidemiology

Year:

1984

Language:

english

File:

PDF, 507 KB

english, 1984

26

Achondrogenesis II–hypochondrogenesis: Variability versus heterogeneity

Zvi Borochowitz, Asher Ornoy, Ralph Lachman, Dr. David L. Rimoin, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 1.56 MB

english, 1986

27

The genetic syndromology of peptic ulcer

Dr. Jerome I. Rotter, David L. Rimoin, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1981

Language:

english

File:

PDF, 491 KB

english, 1981

28

Possible heterogeneity in spondyloenchondrodysplasia: Quadriparesis, basal ganglia calcifications, and chondrocyte inclusions

Moshe Frydman, Jacob Bar-Ziv, Rivka Preminger-Shapiro, Amichai Brezner, Natan Brand, Tamar Ben-Ami, Ralph S. Lachman, Helen E. Gruber, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 692 KB

english, 1990

29

The Erlenmeyer flask bone deformity in the skeletal dysplasias

Maha A. Faden, Deborah Krakow, Fatih Ezgu, David L. Rimoin, Ralph S. Lachman

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 184 KB

english, 2009

30

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

31

The lacrimo-auriculo-dento-digital syndrome

David W. Hollister, Shirley H. Klein, Hendrick J. De Jager, Ralph S. Lachman, David L. Rimoin

Journal:

The Journal of Pediatrics

Year:

1973

Language:

english

File:

PDF, 2.85 MB

english, 1973

32

The G deletion syndromes

Richard J. Warren, David L. Rimoin

Journal:

The Journal of Pediatrics

Year:

1970

Language:

english

File:

PDF, 949 KB

english, 1970

33

Arterial tortuosity in patients with Filamin A - associated vascular aneurysms

Reinstein, Eyal, Morris, Shaine A., Rimoin, David L., Robertson, Stephen P., Lacro, Ronald V.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.05 MB

english, 2014

34

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

Superti-Furga, Andrea, Hästbacka, Johanna, Wilcox, William R., Cohn, Daniel H., van der Harten, Hans J., Rossi, Antonio, Blau, Nenad, Rimoin, David L., Steinmann, Beat, Lander, Eric S.

Journal:

Nature Genetics

Year:

1996

File:

PDF, 381 KB

1996

35

Incorporation of Structurally Defective Type II Collagen into Cartilage Matrix in Kniest Chondrodysplasia

Russell J. Fernandes, Douglas J. Wilkin, Mary Ann Weis, William R. Wilcox, Daniel H. Cohn, David L. Rimoin, David R. Eyre

Journal:

Archives of Biochemistry and Biophysics

Year:

1998

Language:

english

File:

PDF, 753 KB

english, 1998

36

The winchester syndrome: A nonlysosomal connective tissue disease

David W. Hollister, David L. Rimoin, Ralph S. Lachman, Arthur H. Cohen, William B. Reed, G. Wilbur Westin

Journal:

The Journal of Pediatrics

Year:

1974

Language:

english

File:

PDF, 7.02 MB

english, 1974

37

Prenatal diagnosis of the skeletal dysplasias

Sharony, Reuven, Browne, Charlie, Lachman, Ralph S., Rimoin, David L.

Journal:

American Journal of Obstetrics and Gynecology

Year:

1993

Language:

english

File:

PDF, 1.59 MB

english, 1993

38

Genetic screening in the Persian Jewish community: A pilot study

Kaback, Michael, Lopatequi, Jean, Portuges, Amin Riley, Quindipan, Cathy, Pariani, Mitchel, Salimpour-Davidov, Nilou, Rimoin, David L

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 195 KB

english, 2010

39

“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

40

Ovarian cysts on prenatal MRI

Ursula Nemec, Stefan F. Nemec, Dieter Bettelheim, Peter C. Brugger, Ernst Horcher, Veronika Schöpf, John M. Graham Jr., David L. Rimoin, Michael Weber, Daniela Prayer

Journal:

European Journal of Radiology

Year:

2012

Language:

english

File:

PDF, 1.05 MB

english, 2012

41

Macrocephaly with multiple lipomas and hemangiomas

Jonathan Zonana, David L. Rimoin, David C. Davis

Journal:

The Journal of Pediatrics

Year:

1976

Language:

english

File:

PDF, 670 KB

english, 1976

42

Heterogeneity of nonlethal severe short-limbed dwarfism

Giovanni Romeo, Jonathan Zonana, David L. Rimoin, Ralph S. Lachman, Charles I. Scott Jr., Elisabeth G. Kaveggia, Jurgen W. Spranger, John M. Opitz

Journal:

The Journal of Pediatrics

Year:

1977

Language:

english

File:

PDF, 3.29 MB

english, 1977

43

Duodenal-Ulcer Disease Associated with Elevated Serum Pepsinogen I

Rotter, Jerome I., Sones, James Q., Samloff, I. Michael, Richardson, Charles T., Gursky, Jason M., Walsh, John H., Rimoin, David L.

Journal:

Boston Medical and Surgical Journal

Year:

1979

Language:

english

File:

PDF, 653 KB

english, 1979

44

FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry

Xue, Yuan, Sun, Angela, Mekikian, P. Betty, Martin, Jorge, Rimoin, David L., Lachman, Ralph S., Wilcox, William R.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 403 KB

english, 2014

45

Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

Karen M. Brookhyser, Mark H. Lipson, Ann B. Moser, Hugo W. Moser, Ralph S. Lachman, David L. Rimoin

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 107 KB

english, 1999

46

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita

Sheila Unger, Jarmo Korkko, Deborah Krakow, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 225 KB

english, 2001

47

Situs anomalies on prenatal MRI

Stefan F. Nemec, Peter C. Brugger, Ursula Nemec, Dieter Bettelheim, Gregor Kasprian, Gabriele Amann, David L. Rimoin, John M. Graham Jr., Daniela Prayer

Journal:

European Journal of Radiology

Year:

2012

Language:

english

File:

PDF, 786 KB

english, 2012

48

Reply

David L. Rimoin

Journal:

The Journal of Pediatrics

Year:

1991

Language:

english

File:

PDF, 193 KB

english, 1991

49

A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia

J.WIIkln, Douglas, Bogaert, Ray, Lachman, Ralph S., L.Rimoin, David, Eyre, David R., Cohn, Daniel H.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.77 MB

english, 1994

50

Mutations in the Cartilage Oligomeric Matrix Protein (COMP) Gene in Pseudoachondroplasia and Multiple Epiphyseal Dysplasia

Daniel H. Cohn, Michael D. Briggs, Lily M. King, David L. Rimoin, William R. Wilcox, Ralph S. Lachman, Robert G. Knowlton

Journal:

Annals of the New York Academy of Sciences

Year:

1996

Language:

english

File:

PDF, 727 KB

english, 1996

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