David Rimoin: search on Z-Library

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51

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: A congenital familial skeletal dysplasia with distinctive features and histopathology

Dr. Zvi Borochowitz, Leonard O. Langer Jr., Helen E. Gruber, Ralph Lachman, Mariassa Bat-Miriam Katznelson, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 3.22 MB

english, 1993

52

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

53

Hearing loss and temporal bone structure in achondroplasia

Mordechai Shohat, Eugene Flaum, Steven R. Cobb, Ralph Lachman, Cathi Rubin, Carol Ash, Dr. David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 335 KB

english, 1993

54

Hydrops-ectopic calcification—moth-eaten skeletal dysplasia (Greenberg dysplasia): Prenatal diagnosis and further delineation of a rare genetic disorder

Dr. David Chitayat, Helen Gruber, Brendan J. Mullen, David Pauzner, Teresa Costa, Ralph Lachman, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 804 KB

english, 1993

55

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

56

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

57

Distinguishing Pacman dysplasia from mucolipidosis II: Comment on Saul et al. [2005]

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

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 32 KB

english, 2005

58

Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness

Vishal K. Agarwal, Ralph S. Lachman, David L. Rimoin, William R. Wilcox

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 194 KB

english, 2005

59

Osteocraniostenosis–hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology

Alison M. Elliott, William R. Wilcox, Gerald S. Spear, Fiona M. Field, Thora S. Steffensen, Barbara D. Friedman, David L. Rimoin, Ralph S. Lachman

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 422 KB

english, 2006

60

Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988–2006)

Yasemin Alanay, Deborah Krakow, David L. Rimoin, Ralph S. Lachman

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 316 KB

english, 2007

61

Diaphanospondylodysostosis: Six new cases and exclusion of the candidate genes, PAX1 and MEOX1

Nithiwat Vatanavicharn, John M. Graham Jr, Cynthia J. Curry, Samuel Pepkowitz, Ralph S. Lachman, David L. Rimoin, William R. Wilcox

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 559 KB

english, 2007

62

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

63

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis

Deborah Krakow, Yasemin Alanay, Lauren P. Rimoin, Victoria Lin, William R. Wilcox, Ralph S. Lachman, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 276 KB

english, 2008

64

Multilayered patella: Similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia

Nithiwat Vatanavicharn, Ralph S. Lachman, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 164 KB

english, 2008

65

Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2

Areeg H. El-Gharbawy, Joseph N. Peeden Jr., Ralph S. Lachman, John M. Graham Jr., Stephen R. Moore, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 185 KB

english, 2010

66

Spectrum of dolichospondylic dysplasia: Two new patients with distinctive findings

Alison M. Elliott, John M. Graham Jr., Cynthia J.R. Curry, Tuya Pal, David L. Rimoin, Ralph S. Lachman

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 446 KB

english, 2002

67

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

68

Prenatal diagnosis of osteogenesis imperfecta type III

L. Pat Robinson, Nancy J. Worthen, Ralph S. Lachman, Gerald E. Adomian, David L. Rimoin

Journal:

Prenatal Diagnosis

Year:

1987

Language:

english

File:

PDF, 777 KB

english, 1987

69

Fetal akinesia/hypokinesia sequence: Prenatal diagnosis and intra-familial variability

Carlos A. Bacino, Lawrence D. Platt, Ann Garber, Dru Carlson, Samuel Pepkowitz, Ralph S. Lachman, Reuven Sharony, David L. Rimoin, John M. Graham Jr

Journal:

Prenatal Diagnosis

Year:

1993

Language:

english

File:

PDF, 909 KB

english, 1993

70

Fetal akinesia and associated abnormalities on prenatal MRI

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

Journal:

Prenatal Diagnosis

Year:

2011

Language:

english

File:

PDF, 183 KB

english, 2011

71

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

72

Open quiz solution: Case report 744

Zipora C. Falik Borenstein, Carol B. Hyman, David L. Rimoin, Cathy L. Chapman, Ralph Lachman

Journal:

Skeletal Radiology

Year:

1992

Language:

english

File:

PDF, 754 KB

english, 1992

73

Genetic homogeneity of cartilage-hair hypoplasia

Tuija Sulisalo, Ineke Burgt, David L. Rimoin, Jaques Bonaventure, David Sillence, John B. Campbell, David Chitayat, Charles I. Scott, Albert Chapelle, Pertti Sistonen, Ilkka Kaitila

Journal:

Year:

1995

Language:

english

File:

PDF, 290 KB

english, 1995

74

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

David L. Rimoin, I. Merete Rasmussen, Michael D. Briggs, Peter J. Roughley, Helen E. Gruber, Matthew L. Warman, Bjorn R. Olsen, Y. Edward Hsia, Juliet Yuen, Kent Reinker, Ann P. Garber, Judy Grover, R

Journal:

Year:

1994

Language:

english

File:

PDF, 2.39 MB

english, 1994

75

Open quiz: Case report 744

Zipora C. Falik Borenstein, Carol B. Hyman, David L. Rimoin, Cathy L. Chapman, Ralph Lachman

Journal:

Skeletal Radiology

Year:

1992

Language:

english

File:

PDF, 590 KB

english, 1992

76

Micromelic bone dysplasia with cloverleaf skull

Ralph Lachman, David L. Rimoin, P. E. Andersen, Kirsten Kock, J. Spranger

Journal:

Skeletal Radiology

Year:

1989

Language:

english

File:

PDF, 116 KB

english, 1989

77

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

78

Occipital projections in the skeletal dysplasias

Yuji Takamine, Ralph S. Lachman, Fiona M. Field, David L. Rimoin

Journal:

Pediatric Radiology

Year:

2004

Language:

english

File:

PDF, 255 KB

english, 2004

79

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

80

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)

Stefan F. Nemec, Daniel H. Cohn, Deborah Krakow, Vincent A. Funari, David L. Rimoin, Ralph S. Lachman

Journal:

Pediatric Radiology

Year:

2012

Language:

english

File:

PDF, 609 KB

english, 2012

81

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

Sheila L. Unger, Michael D. Briggs, Paul Holden, Bernhard Zabel, Leena Ala-Kokko, Petteri Paassilta, Jaana Lohiniva, David L. Rimoin, R. S. Lachman, Daniel H. Cohn

Journal:

Pediatric Radiology

Year:

2001

Language:

english

File:

PDF, 194 KB

english, 2001

82

“Duplicate calcaneus”: a rare developmental defect observed in several skeletal dysplasias

Valérie Cormier-Daire, Ravi Savarirayan, Sheila Unger, David L. Rimoin, Ralph S. Lachman

Journal:

Pediatric Radiology

Year:

2001

Language:

english

File:

PDF, 91 KB

english, 2001

83

Pathological fractures in spondyloenchondrodysplasia: case report

Yevgenia Udler, Gabrielle J. Halpern, Ralph S. Lachman, David L. Rimoin, Mordechai Shohat

Journal:

Pediatric Radiology

Year:

2000

Language:

english

File:

PDF, 178 KB

english, 2000

84

The scapula as a window to the diagnosis of skeletal dysplasias

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

Journal:

Pediatric Radiology

Year:

1997

Language:

english

File:

PDF, 893 KB

english, 1997

85

Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type

Hiroshi Kitoh, Ralph S. Lachman, Steven G. Brodie, Pertchoui B. Mekikian, David L. Rimoin, William R. Wilcox

Journal:

Pediatric Radiology

Year:

1998

Language:

english

File:

PDF, 863 KB

english, 1998

86

Mesomelic shortening of the upper extremities with spur formation and cutaneous dimpling

Berit Kerner, David L. Rimoin, Ralph S. Lachman

Journal:

Pediatric Radiology

Year:

1998

Language:

english

File:

PDF, 329 KB

english, 1998

87

Nephronophthisis associated with Ellis-van Creveld syndrome

Asha Moudgil, Arvind Bagga, Elaine S. Kamil, David L. Rimoin, Ralph S. Lachman, Arthur H. Cohen, Stanley C. Jordan

Journal:

Pediatric Nephrology

Year:

1998

Language:

english

File:

PDF, 895 KB

english, 1998

88

The skeleton and musculature on foetal MRI

Ursula Nemec, Stefan F. Nemec, Deborah Krakow, Peter C. Brugger, Gustavo Malinger, John M. Graham, David L. Rimoin, Daniela Prayer

Journal:

Insights into Imaging

Year:

2011

Language:

english

File:

PDF, 541 KB

english, 2011

89

10.1038/10357

Valle, David, Braverman, Nancy, Lin, Paul, Moebius, Fabian F., Obie, Cassandra, Moser, Ann, Glossmann, Hartmut, Wilcox, William R., Rimoin, David L., Smith, Moyra, Kratz, Lisa, Kelley, Richard I.

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 237 KB

english, 1999

90

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

91

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Tavormina, Patricia L., Shiang, Rita, Thompson, Leslie M., Zhu, Ya-Zhen, Wilkin, Douglas J., Lachman, Ralph S., Wilcox, William R., Rimoin, David L., Cohn, Daniel H., Wasmuth, John J.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 951 KB

1995

92

Victor A. McKusick 1921–2008

Rimoin, David L

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 130 KB

english, 2008

93

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type

Tiller, George E., Polumbo, Paula A., Weis, Mary Ann, Bogaert, Ray, Lachman, Ralph S., Cohn, Daniel H., Rimoin, David L., Eyre, David R.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 420 KB

1995

94

Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

Hiraoka, Shuichi, Furuichi, Tatsuya, Nishimura, Gen, Shibata, Shunichi, Yanagishita, Masaki, Rimoin, David L, Superti-Furga, Andrea, Nikkels, Peter G, Ogawa, Minako, Katsuyama, Kayoko

Journal:

Nature Medicine

Year:

2007

Language:

english

File:

PDF, 515 KB

english, 2007

95

Exclusion of the Ellis–van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes

Krakow, Deborah, Salazar, Denise, Wilcox, William R, Rimoin, David L, Cohn, Daniel H

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 63 KB

english, 2000

96

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A→G mutation of the untranslated RMRP

Ridanpää, Maaret, Sistonen, Pertti, Rockas, Susanna, Rimoin, David L, Mäkitie, Outi, Kaitila, Ilkka

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 347 KB

english, 2002

97

Early-onset osteoarthritis in Ehlers–Danlos syndrome type VIII

Eyal Reinstein, Mitchel Pariani, Ralph S. Lachman, Stephen Nemec, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 190 KB

english, 2012

98

Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia

Eyal Reinstein, Bernard S. Chang, Stephen P. Robertson, David L. Rimoin, Tami Katzir

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 187 KB

english, 2012

99

Male genital abnormalities in intrauterine growth restriction

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

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 141 KB

english, 2012

100

Clubfeet and associated abnormalities on fetal magnetic resonance imaging

Ursula Nemec, Stefan F. Nemec, Gregor Kasprian, Peter C. Brugger, Dieter Bettelheim, Isha Wadhawan, Alexander Kolb, John M. Graham Jr., David L. Rimoin, Daniela Prayer

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 205 KB

english, 2012

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