Rimoin, A. W.: 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

Cytokine modulation correlates with severity of monkeypox disease in humans

Johnston, Sara C., Johnson, Joshua C., Stonier, Spencer W., Lin, Kenny L., Kisalu, Neville K., Hensley, Lisa E., Rimoin, Anne W.

Journal:

Journal of Clinical Virology

Year:

2015

Language:

english

File:

PDF, 367 KB

english, 2015

3

Maternal and Fetal Outcomes Among Pregnant Women With Human Monkeypox Infection in the Democratic Republic of Congo

Mbala, Placide K, Huggins, John W, Riu-Rovira, Therese, Ahuka, Steve M, Mulembakani, Prime, Rimoin, Anne W, Martin, James W, Muyembe, Jean-Jacques T

Journal:

The Journal of Infectious Diseases

Year:

2017

Language:

english

File:

PDF, 182 KB

english, 2017

4

International nosology of heritable disorders of connective tissue, Berlin, 1986

Prof. P. Beighton, A. de Paepe, D. Danks, G. Finidori, T. Gedde-Dahl, R. Goodman, J. G. Hall, D. W. Hollister, W. Horton, V. A. McKusick, J. M. Opitz, F. M. Pope, R. E. Pyeritz, D. L. Rimoin, D. Sille

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 720 KB

english, 1988

5

Deletion of 20p 11.23→pter with normal growth hormone-releasing hormone genes

M. Shohat, V. Herman, S. Melmed, N. Neufeld, R. Schreck, S. Pulst, J. M. Graham Jr., D. L. Rimoin, J. R. Korenberg

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 703 KB

english, 1991

6

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

7

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

8

Simian Foamy Virus (SFV) infection from multiple monkey species in women from the Democratic Republic of Congo

William M Switzer, Steve Ahuka-Mundeke, Shaohua Tang, Anupama Shankar, Nathan D Wolfe, Walid Heneine, Martine Peeters, Ahidjo Ayouba, Prime Mulembakani, Anne W Rimoin

Journal:

Year:

2011

Language:

english

File:

PDF, 168 KB

english, 2011

9

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Briggs, M.D., Hoffman, S.M.G., King, L.M., Olsen, A.S., Mohrenweiser, H., Leroy, J.G., Mortier, G.R., Rimoin, D.L., Lachman, R.S., Gaines, E.S.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 853 KB

1995

10

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

11

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

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

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

14

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

15

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

16

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

17

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

18

The Origin and Prevention of Pandemics

Pike, Brian L., Saylors, Karen E., Fair, Joseph N., LeBreton, Matthew, Tamoufe, Ubald, Djoko, Cyrille F., Rimoin, Anne W., Wolfe, Nathan D.

Journal:

Clinical Infectious Diseases

Year:

2010

Language:

english

File:

PDF, 299 KB

english, 2010

19

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

20

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

21

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

22

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

23

Emerging diseases – The monkeypox epidemic in the democratic repubic of the congo

Kantele, A., Chickering, K., Vapalahti, O., Rimoin, A.W.

Journal:

Clinical Microbiology and Infection

Year:

2016

Language:

english

File:

PDF, 272 KB

english, 2016

24

Prevalence of Rubella Antibodies Among Children in the Democratic Republic of the Congo

Alfonso, Vivian H., Doshi, Reena H., Mukadi, Patrick, Higgins, Stephen G., Hoff, Nicole A., Bwaka, Ado, Mwamba, Guillaume Ngoie, Okitolonda, Emile, Muyembe, Jean-Jacques, Gerber, Sue, Rimoin, Anne W.

Journal:

Pediatric Infectious Disease Journal

Year:

2017

Language:

english

File:

PDF, 2.39 MB

english, 2017

25

Varicella Coinfection in Patients with Active Monkeypox in the Democratic Republic of the Congo

Hoff, Nicole A., Morier, Douglas S., Kisalu, Neville K., Johnston, Sara C., Doshi, Reena H., Hensley, Lisa E., Okitolonda-Wemakoy, Emile, Muyembe-Tamfum, Jean Jacques, Lloyd-Smith, James O., Rimoin, A

Journal:

Year:

2017

Language:

english

File:

PDF, 530 KB

english, 2017

26

The Ophthalmic Sequelae of Ebola

Holland, Gary N., Rimoin, Anne W.

Journal:

JAMA Ophthalmology

Year:

2018

Language:

english

File:

PDF, 107 KB

english, 2018

27

Prenatal chlamydial, gonococcal, and trichomonal screening in the Democratic Republic of Congo for case detection and management

Gadoth, Adva, Shannon, Chelsea L, Hoff, Nicole A, Mvumbi, GisÃ¨le, Musene, Kamy, Okitolonda-Wemakoy, Emile, Hoffman, Risa M, Rimoin, Anne W, Klausner, Jeffrey D

Journal:

International Journal of STD & AIDS

Year:

2020

Language:

english

File:

PDF, 460 KB

english, 2020

28

Seven Reasons to Care About Racism and COVID-19 and Seven Things to Do to Stop It

Gee, Gilbert C., Ro, Marguerite J., Rimoin, Anne W.

Journal:

American Journal of Public Health

Year:

2020

File:

PDF, 548 KB

2020

29

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

30

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

31

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

32

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

33

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

34

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

35

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

36

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

37

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

38

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

39

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

40

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

41

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

42

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

43

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

44

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

45

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

46

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

47

“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

48

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

49

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

50

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