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

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

3

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

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

15

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

16

Epidemiology of osteochondrodysplasias: Changing trends due to advances in prenatal diagnosis

Rasmussen, Sonja A., Bieber, Frederick R., Benacerraf, Beryl R., Lachman, Ralph S., Rimoin, David L., Holmes, Lewis B.

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 1.01 MB

1996

17

Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature

Mortier, Geert R., Lachman, Ralph S., Bocian, Maureen, Rimoin, David L.

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 935 KB

1996

18

The Pointer syndrome: A new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties

Huq, A.H.M. Mahbubul, Braverman, Richard M., Greenberg, Frank, Bacino, Carlos A., Rimoin, David L., Lachman, Ralph S., Levin, Michael L.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 423 KB

english, 1997

19

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

20

Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration

Khosravi, Mahvash, Weaver, David D., Bull, Marilyn J., Lachman, Ralph, Rimoin, David L.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 551 KB

english, 1998

21

Pacman dysplasia: Report of two affected sibs

Wilcox, William R., Lucas, Barbie C., Loebel, Barbara, Bachman, Ronald P., Lachman, Ralph S., Rimoin, David L.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 226 KB

english, 1998

22

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

23

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred

Ahmad, Mahmud, Ul Haque, Muhammad Faiyaz, Ahmad, Wasim, Abbas, Hasan, Haque, Sayedul, Krakow, Deborah, Rimoin, David L., Lachman, Ralph S., Cohn, Daniel H.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 503 KB

english, 1998

24

Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II

Brodie, Steven G., Lachman, Ralph S., Crandall, Barbara F., Fox, Michelle A., Rimoin, David L., Cohn, Daniel H., Wilcox, William R.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 442 KB

english, 1998

25

Abnormal sterol metabolism in patients with Conradi-H�nermann-Happle syndrome and sporadic lethal chondrodysplasia punctata

Kelley, Richard I., Wilcox, William G., Smith, Moyra, Kratz, Lisa E., Moser, Ann, Rimoin, David S.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 207 KB

english, 1999

26

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3

Bellus, Gary A., Bamshad, Michael J., Przylepa, Kelly A., Dorst, John, Lee, Roland R., Hurko, Orest, Jabs, Ethylin W., Curry, Cynthia J.R., Wilcox, William R., Lachman, Ralph S., Rimoin, David L., Fra

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 843 KB

english, 1999

27

Small deletions in the type II collagen triple helix produce Kniest dysplasia

Wilkin, Douglas J., Artz, Andrew S., South, Sarah, Lachman, Ralph S., Rimoin, David L., Wilcox, William R., McKusick, Victor A., Stratakis, Constantine A., Francomano, Clair A., Cohn, Daniel H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 617 KB

english, 1999

28

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

29

New mesomelic dysplasia with absent fibulae and triangular tibiae

Ravi Savarirayan, Valérie Cormier-Daire, Cynthia J. Curry, Marcus B. Nashelsky, Valerie Rappaport, David L. Rimoin, Ralph S. Lachman

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 244 KB

english, 2000

30

Oto-palato-digital syndrome, type II: Report of three cases with further delineation of the chondro-osseous morphology

Ravi Savarirayan, Valérie Cormier-Daire, Sheila Unger, Ralph S. Lachman, Peter J. Roughley, Stephen F. Wagner, David L. Rimoin, William R. Wilcox

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 821 KB

english, 2000

31

Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: Three additional cases

Alison M. Elliott, Elizabeth R. Roeder, David R. Witt, David L. Rimoin, Ralph S. Lachman

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 742 KB

english, 2000

32

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

33

Molecular-pathogenetic classification of genetic disorders of the skeleton

Andrea Superti-Furga, Luisa Bonafé, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 179 KB

english, 2001

34

“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

35

International nomenclature of constitutional diseases of bone: Revision—May 1977

David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

1979

Language:

english

File:

PDF, 260 KB

english, 1979

36

Congenital macular colobomas and short-limb skeletal dysplasia

Richard D. Smith, Robert M. Fineman, David O. Sillence, Patric D. Lester, G. William Nixon, David L. Rimoin, Ralph S. Lachman, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1980

Language:

english

File:

PDF, 529 KB

english, 1980

37

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

38

Additional comments on the ulcer-multiple lentigines syndrome

Jerome I. Rotter, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

1982

Language:

english

File:

PDF, 137 KB

english, 1982

39

Fibrochondrogenesis: Radiologic and histologic studies

Donna Jane Eteson, Gerald E. Adomian, Asher Ornoy, Toshio Koide, Yasuo Sugiura, Anna Calabro, Serena Lungarotti, Pierpaolo Mastroiacovo, Ralph S. Lachman, Dr. David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 1.24 MB

english, 1984

40

Oto-palato-digital syndrome, type II—an X-linked skeletal dysplasia

Thomas G. Brewster, Ralph S. Lachman, David C. Kushner, Lewis B. Holmes, Robert J. Isler, David L. Rimoin, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 304 KB

english, 1985

41

Computerized tomography of the foramen magnum: Achondroplastic values compared to normal standards

Jacqueline T. Hecht, F. William Nelson, Lan J. Butler, William A. Horton, Charles I. Scott Jr, E. Robert Wassman, C. Mark Mehringer, David L. Rimoin, Richard M. Pauli, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 355 KB

english, 1985

42

Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation

Dr. Alasdair G. W. Hunter, David L. Rimoin, Ulrike M. Koch, G. June MacDonald, David M. Cox, Ralph S. Lachman, Gerald Adomian, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 596 KB

english, 1985

43

Histologic and ultrastructural studies on the mineralization process in hypophosphatasia

Dr. Asher Ornoy, Gerald E. Adomian, David L. Rimoin, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 1.82 MB

english, 1985

44

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

45

Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome

Leslie J. Raffel, T. Mohandas, M.D., Ph.D. David L. Rimoin, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 414 KB

english, 1986

46

A new category of lethal short-limbed dwarfism

Dr. Simon Knowles, Robin Winter, David Rimoin, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 469 KB

english, 1986

47

Dyssegmental dysplasias: Clinical, radiographic, and morphologic evidence of heterogeneity

Dr. Kirk A. Aleck, Art Grix, Carol Clericuzio, Paige Kaplan, Gerald E. Adomian, Ralph Lachman, David L. Rimoin, Judith G. Hall

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 2.77 MB

english, 1987

48

A new autosomal recessive lethal chondrodystrophy with congenital hydrops

Cheryl R. Greenberg, Dr. David L. Rimoin, Helen E. Gruber, D. J. B. DeSa, M. Reed, Ralph S. Lachman, John M. Optiz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 675 KB

english, 1988

49

Atelosteogenesis type III: A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II

Harvey J. Stern, John M. Graham Jr., Ralph S. Lachman, William Horton, Philip M. Bernini, Peter K. Spiegel, Joann Bodurtha, Elizabeth J. Ives, Maureen Bocian, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 1.36 MB

english, 1990

50

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

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