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David Rimoin

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Brenda D Barajas; David L Rimoin; Angela Sun; Eyal Reinstein
Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder.
Ursula Nemec; David L Rimoin; Michael Weber; Dieter Bettelheim; Peter C Brugger; Gregor Kasprian; Ralph S Lachman; Gustavo Malinger; Stefan Franz Nemec; Daniela Prayer
Human long bone development in vivo: analysis of the distal femoral epimetaphysis on MR images of fetuses.
Eyal Reinstein; David L Rimoin; Isha Wadhawan; Yael Wilnai; Melanie Manning; Ericka B Okenfuss; Ralph S Lachman
Axial spondylometaphyseal dysplasia with retinitis pigmentosa-a clinical report and diagnostic clues.

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All Publications

2013: Brenda D Barajas; David L Rimoin; Angela Sun; Eyal Reinstein
Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder.
American journal of medical genetics. Part A 2013;161(6):1442-6.
2013: Ursula Nemec; David L Rimoin; Michael Weber; Dieter Bettelheim; Peter C Brugger; Gregor Kasprian; Ralph S Lachman; Gustavo Malinger; Stefan Franz Nemec; Daniela Prayer
Human long bone development in vivo: analysis of the distal femoral epimetaphysis on MR images of fetuses.
Radiology 2013;267(2):570-80.
2013: Eyal Reinstein; David L Rimoin; Isha Wadhawan; Yael Wilnai; Melanie Manning; Ericka B Okenfuss; Ralph S Lachman
Axial spondylometaphyseal dysplasia with retinitis pigmentosa-a clinical report and diagnostic clues.
Journal of applied genetics 2013;54(2):231-4.
2013: Eyal Reinstein; David L Rimoin; Joaquín Arcas; Montserrat Bret Zurita; Brian Coppin; Sophia Frentz; Sixto García-Miñaúr; John M Graham; Muriel Holder-Espinasse; Margaret Horton; Richard J Leventer; George McGillivray; Carmen Morales; Tim Morgan; Mitchel Pariani; Michael Pope; Terry Robertson; Yuri Rodrigues; Jose I Rodríguez; Anand Saggar; Richard Scott; Robert Siegel; Elizabeth M Thompson; Anthony van der Steen; Elaine Zackai; Stephen P Robertson
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
European journal of human genetics : EJHG 2013;21(5):494-502.
2013: Eyal Reinstein; David L Rimoin; Serguei Bannykh; Mitchel Pariani; Wouter I Schievink
Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study.
European journal of human genetics : EJHG 2013;21(4):386-90.
2013: Eyal Reinstein; David L Rimoin; Ziv Simon; Serguei Bannykh; Celia Dawn DeLozier; Cynthia J R Curry
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.
European journal of human genetics : EJHG 2013;21(2):233-6.
2012: Eyal Reinstein; Stephen Nemec; Mitchel Pariani; Mark Pimentel; TP Sokol; David L Rimoin
Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome: presentation of a rare manifestation and review of the literature.
European journal of medical genetics 2012;55(10):548-51.
2012: Ursula Nemec; David L Rimoin; Isha Wadhawan; Dieter Bettelheim; Peter C Brugger; John M Graham; Gregor Kasprian; Alexander Kolb; Stefan Franz Nemec; Daniela Prayer
Clubfeet and associated abnormalities on fetal magnetic resonance imaging.
Prenatal diagnosis 2012;32(9):822-8.
2012: Eyal Reinstein; David L Rimoin; Stephen P Robertson; Bernard S Chang; Tami Katzir
Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia.
American journal of medical genetics. Part A 2012;158A(8):1897-901.
2012: Ursula Nemec; David L Rimoin; Veronika Schöpf; Michael Weber; Dieter Bettelheim; Peter C Brugger; John M Graham; Ernst Horcher; Stefan Franz Nemec; Daniela Prayer
Ovarian cysts on prenatal MRI.
European journal of radiology 2012;81(8):1937-44.
2012: Stefan Franz Nemec; Ursula Nemec; Dieter Bettelheim; Peter C Brugger; John M Graham; David L Rimoin; Michael Weber; Daniela Prayer
Male genital abnormalities in intrauterine growth restriction.
Prenatal diagnosis 2012;32(5):427-31.
2012: Hane Lee; Stanley F Nelson; David L Rimoin; Stuart W Tompson; John M Graham; Deborah Krakow; Pavel Krejci; Ralph S Lachman; Daniel H Cohn
Exome sequencing identifies PDE4D mutations in acrodysostosis.
American journal of human genetics 2012;90(4):746-51.
2012: Eyal Reinstein; Ralph S Lachman; Stephen Nemec; Mitchel Pariani; David L Rimoin
Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.
American journal of medical genetics. Part A 2012;158A(4):938-41.
2012: Stefan Franz Nemec; David L Rimoin; Ralph S Lachman
Radiological aspects of prenatal-onset cortical hyperostosis [Caffey Dysplasia].
European journal of radiology 2012;81(4):e565-72.
2012: Stefan Franz Nemec; Ursula Nemec; David L Rimoin; Gabriele Amann; Dieter Bettelheim; Peter C Brugger; John M Graham; Gregor Kasprian; Daniela Prayer
Situs anomalies on prenatal MRI.
European journal of radiology 2012;81(4):e495-501.
2012: Stefan Franz Nemec; Ursula Nemec; Dieter Bettelheim; Peter C Brugger; John M Graham; David L Rimoin; Sigi Rotmensch; Daniela Prayer
MR imaging of the fetal musculoskeletal system.
Prenatal diagnosis 2012;32(3):205-13.
2012: Stefan Franz Nemec; U Nemec; David L Rimoin; Sigi Rotmensch; M Weber; Dieter Bettelheim; Peter C Brugger; John M Graham; Christian Krestan; Daniela Prayer
Penile biometry on prenatal magnetic resonance imaging.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2012;39(3):330-5.
2011: Arleen D Auerbach; John Burn; Jean-Jacques Cassiman; Mireille Claustres; Richard G H Cotton; Garry R Cutting; Johan T den Dunnen; Mona El-Ruby; Marc S Greenblatt; Finlay Macrae; Yoichi Matsubara; David L Rimoin; Aida Falcon Vargas; Mauno Vihinen; Christine Van Broeckhoven
Mutation (variation) databases and registries: a rationale for coordination of efforts.
Nature reviews. Genetics 2011;12(12):881; discussion 881.
2011: Stefan Franz Nemec; U Nemec; David L Rimoin; Sigi Rotmensch; M Weber; Peter C Brugger; John M Graham; Gregor Kasprian; Christian Krestan; Daniela Prayer
Female external genitalia on fetal magnetic resonance imaging.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2011;38(6):695-700.
2011: Stefan Franz Nemec; U Nemec; David L Rimoin; Sigi Rotmensch; M Weber; Peter C Brugger; John M Graham; Gregor Kasprian; Christian Krestan; Daniela Prayer
Male sexual development in utero: testicular descent on prenatal magnetic resonance imaging.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2011;38(6):688-94.
2011: Stefan Franz Nemec; U Nemec; David L Rimoin; Sigi Rotmensch; G Amann; Dieter Bettelheim; Peter C Brugger; John M Graham; Gregor Kasprian; R S Lachman; Daniela Prayer
Abnormalities of the upper extremities on fetal magnetic resonance imaging.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2011;38(5):559-67.
2011: Stefan Franz Nemec; Ursula Nemec; David L Rimoin; Siegfried Rotmensch; Dieter Bettelheim; Peter C Brugger; John M Graham; Gregor Kasprian; Christian Krestan; Daniela Prayer
Abnormalities of the penis in utero--hypospadias on fetal MRI.
Journal of perinatal medicine 2011;39(4):451-6.
2011: 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 Savarirayan; David Sillence; Juergen Spranger; Sheila Unger; Bernhard Zabel; Andrea Superti-Furga
Nosology and classification of genetic skeletal disorders: 2010 revision.
American journal of medical genetics. Part A 2011;155A(5):943-68.
2011: Stefan Franz Nemec; Romana Höftberger; Ursula Nemec; Dieter Bettelheim; Peter C Brugger; Gregor Kasprian; Gabriele Amann; Siegfried Rotmensch; John M Graham; David L Rimoin; Daniela Prayer
Fetal akinesia and associated abnormalities on prenatal MRI.
Prenatal diagnosis 2011;31(5):484-90.
2011: Eyal Reinstein; Raymond Y Wang; Ling Zhan; David L Rimoin; William R Wilcox
Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree.
American journal of medical genetics. Part A 2011;155A(4):742-7.
2011: David L Rimoin
The American College of Medical Genetics, the first 20 years.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(3):179-87.
2010: Vincent A Funari; Deborah Krakow; Lisette Nevarez; Zugen Chen; Tara L Funari; Nithiwat Vatanavicharn; William R Wilcox; David L Rimoin; Stanley F Nelson; Daniel H Cohn
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.
American journal of human genetics 2010;87(4):532-7.
2010: Michael M Kaback; Jean Lopatequi; Amin Riley Portuges; Cathy Quindipan; Mitchel Pariani; Nilou Salimpour-Davidov; David L Rimoin
Genetic screening in the Persian Jewish community: A pilot study.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(10):628-33.
2010: Deborah Krakow; David L Rimoin
The skeletal dysplasias.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(6):327-41.
2010: Areeg H El-Gharbawy; Joseph N Peeden; Ralph S Lachman; John M Graham; Stephen R Moore; David L Rimoin
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.
American journal of medical genetics. Part A 2010;152A(1):169-74.
2009: Maha A Faden; Deborah Krakow; Fatih Ezgu; David L Rimoin; Ralph S Lachman
The Erlenmeyer flask bone deformity in the skeletal dysplasias.
American journal of medical genetics. Part A 2009;149A(6):1334-45.
2009: Suzanne M Yandow; David L Rimoin; Aimee M Grace; Ramona R Fillman; Ellen M Raney
Transient monoparesis after blade plate removal in a Hutchinson-Gilford progeria syndrome patient: a case report.
Journal of pediatric orthopedics. Part B 2009;18(3):151-6.
2009: Amy Merrill; Barry Merriman; Claire Farrington-Rock; Natalia Camacho; Eiman Sebald; Vincent A Funari; Matthew J Schibler; Marc H Firestein; Zachary A Cohn; Mary Ann Priore; Alicia K Thompson; David L Rimoin; Stanley F Nelson; Daniel H Cohn; Deborah Krakow
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.
American journal of human genetics 2009;84(4):542-9.
2009: Mitchel J Pariani; Andrew Spencer; John M Graham; David L Rimoin
A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis.
European journal of medical genetics 2009;52(2-3):123-7.
2009: Deborah Krakow; Joris Vriens; Natalia Camacho; Phi Luong; Hannah Deixler; Tara L Funari; Carlos A Bacino; Mira B Irons; Ingrid A Holm; Laurie Sadler; Ericka B Okenfuss; Annelies Janssens; Thomas Voets; David L Rimoin; Ralph S Lachman; Bernd Nilius; Daniel H Cohn
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
American journal of human genetics 2009;84(3):307-15.
2009: Deborah Krakow; Ralph S Lachman; David L Rimoin
Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(2):127-33.
2009: Stuart W Tompson; Barry Merriman; Vincent A Funari; Maryline Fresquet; Ralph S Lachman; David L Rimoin; Stanley F Nelson; Michael D Briggs; Daniel H Cohn; Deborah Krakow
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
American journal of human genetics 2009;84(1):72-9.
2008: Dustin Baldridge; Ulrike Schwarze; Roy Morello; Jennifer Lennington; Terry K Bertin; James M Pace; Melanie G Pepin; Maryann Weis; David R Eyre; Jennifer Walsh; Deborah Lambert; Andrew Green; Haynes Robinson; Melonie Michelson; Gunnar Houge; Carl Lindman; Judith Martin; Jewell Ward; Emmanuelle Lemyre; John J Mitchell; Deborah Krakow; David L Rimoin; Daniel H Cohn; Peter H Byers; Brendan Lee
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Human mutation 2008;29(12):1435-42.
2008: Deborah Krakow; Yasemin Alanay; Lauren P Rimoin; Victoria Lin; William R Wilcox; Ralph S Lachman; David L Rimoin
Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.
American journal of medical genetics. Part A 2008;146A(15):1917-24.
2008: Matthew J Rock; Jean Prenen; Vincent A Funari; Tara L Funari; Barry Merriman; Stanley F Nelson; Ralph S Lachman; William R Wilcox; Soraya Reyno; Roberto Quadrelli; Alicia Vaglio; Grzegorz Owsianik; Annelies Janssens; Thomas Voets; Shiro Ikegawa; Toshiro Nagai; David L Rimoin; Bernd Nilius; Daniel H Cohn
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
Nature genetics 2008;40(8):999-1003.
2008: Nithiwat Vatanavicharn; Ralph S Lachman; David L Rimoin
Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.
American journal of medical genetics. Part A 2008;146A(13):1682-6.
2007: Moise Danielpour; William R Wilcox; Yasemin Alanay; Barry D Pressman; David L Rimoin
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases.
Journal of neurosurgery 2007;107(6 Suppl):504-7.
2007: David L Rimoin; Daniel Cohn; Deborah Krakow; William R Wilcox; Ralph S Lachman; Yasemin Alanay
The skeletal dysplasias: clinical-molecular correlations.
Annals of the New York Academy of Sciences 2007;1117():302-9.
2007: Shuichi Hiraoka; Tatsuya Furuichi; Gen Nishimura; Shunichi Shibata; Masaki Yanagishita; David L Rimoin; andrea superti-furga; Peter Nikkels; Minako Ogawa; Kayoko Katsuyama; Hidenao Toyoda; Akiko Kinoshita-Toyoda; Nobuhiro Ishida; Kyoichi Isono; Yutaka Sanai; Daniel H Cohn; Haruhiko Koseki; Shiro Ikegawa
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.
Nature medicine 2007;13(11):1363-7.
2007: David L Rimoin
2006 ASHG Leadership Award. A half century of medical genetics--where do we go from here?
American journal of human genetics 2007;81(4):670-2.
2007: Nithiwat Vatanavicharn; John M Graham; Cynthia J R Curry; Samuel Pepkowitz; Ralph S Lachman; David L Rimoin; William R Wilcox
Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1.
American journal of medical genetics. Part A 2007;143A(19):2292-302.
2007: Yasemin Alanay; Deborah Krakow; David L Rimoin; Ralph S Lachman
Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006).
American journal of medical genetics. Part A 2007;143A(11):1159-68.
2007: Gen Nishimura; Eiji Nakashima; Yuichiro Hirose; Trevor Cole; Phillip Cox; Daniel H Cohn; David L Rimoin; Ralph S Lachman; Yoshinari Miyamoto; Bronwyn Kerr; Sheila Unger; Hirofumi Ohashi; andrea superti-furga; Shiro Ikegawa
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
Journal of medical genetics 2007;44(4):e73.
2007: Louise S Bicknell; Claire Farrington-Rock; Yousef Shafeghati; Patrick Rump; Yasemin Alanay; Yves Alembik; Navid Al-Madani; Helen V Firth; Mohammad Hassan Karimi-Nejad; Chong A Kim; Kathryn Leask; Melissa K Maisenbacher; Ellen Moran; John G Pappas; Paolo Prontera; T J L de Ravel; Jean-Pierre Fryns; Elizabeth Sweeney; Alan Fryer; Sheila Unger; Louise C Wilson; Ralph S Lachman; David L Rimoin; Daniel H Cohn; Deborah Krakow; Stephen P Robertson
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Journal of medical genetics 2007;44(2):89-98.
2006: Alison M Elliott; William R Wilcox; Gerald S Spear; Fiona M Field; Thora S Steffensen; Barbara D Friedman; David L Rimoin; Ralph S Lachman
Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology.
American journal of medical genetics. Part A 2006;140(14):1553-63.
2006: Claire Farrington-Rock; Marc H Firestein; Louise S Bicknell; andrea superti-furga; Carlos A Bacino; Valérie Cormier-Daire; Martine Le Merrer; Clarisse Baumann; Joelle Roume; Patrick Rump; Joke B G M Verheij; Elizabeth Sweeney; David L Rimoin; Ralph S Lachman; Stephen P Robertson; Daniel H Cohn; Deborah Krakow
Mutations in two regions of FLNB result in atelosteogenesis I and III.
Human mutation 2006;27(7):705-10.
2006: Kristien P Hoornaert; C Dewinter; I Vereecke; Frits A Beemer; Winnie Courtens; Alan Fryer; H Fryssira; M Lees; A Müllner-Eidenböck; David L Rimoin; L Siderius; andrea superti-furga; K Temple; Patrick J Willems; Andreas Zankl; C Zweier; Anne De Paepe; Paul Coucke; Geert R Mortier
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.
Journal of medical genetics 2006;43(5):406-13.
2005: Vishal K Agarwal; Ralph S Lachman; David L Rimoin; William R Wilcox
Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness.
American journal of medical genetics. Part A 2005;136(3):233-41.
2005: William R Wilcox; David A Wenger; Ralph S Lachman; David L Rimoin
Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005].
American journal of medical genetics. Part A 2005;135(3):333.
2005: Ralph S Lachman; Deborah Krakow; Daniel H Cohn; David L Rimoin
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.
Pediatric radiology 2005;35(2):116-23.
2005: Alison M Elliott; Fiona M Field; David L Rimoin; Ralph S Lachman
Hand involvement in Schmid metaphyseal chondrodysplasia.
American journal of medical genetics. Part A 2005;132A(2):191-3.
2004: David L Rimoin; Kurt Hirschhorn
A history of medical genetics in pediatrics.
Pediatric research 2004;56(1):150-9.
2004: Yuji Takamine; Ralph S Lachman; Fiona M Field; David L Rimoin
Occipital projections in the skeletal dysplasias.
Pediatric radiology 2004;34(7):530-4.
2004: Deborah Krakow; Stephen P Robertson; Lily M King; Timothy Morgan; Eiman Sebald; Cristina Bertolotto; Sebastian Wachsmann-Hogiu; Dora Acuna; Sandor S Shapiro; Toshiro Takafuta; Salim Aftimos; Chong A Kim; Helen V Firth; Carlos E Steiner; Valérie Cormier-Daire; andrea superti-furga; Luisa Bonafe; John M Graham; Arthur Grix; Carlos A Bacino; Judith E Allanson; Martin G Bialer; Ralph S Lachman; David L Rimoin; Daniel H Cohn
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
Nature genetics 2004;36(4):405-10.
2004: Ravi Savarirayan; David L Rimoin
Skeletal dysplasias.
Advances in pediatrics 2004;51():209-29.
2003: Deborah Krakow; J Williams; M Poehl; David L Rimoin; L D Platt
Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2003;21(5):467-72.
2003: Stephen F Miller; Virginia K Proud; Alice L Werner; Fiona M Field; William F Wilcox; Ralph S Lachman; David L Rimoin
Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features.
Pediatric radiology 2003;33(4):256-60.
2003: Valérie Cormier-Daire; Anne-Lise Delezoide; N Philip; Pascale Marcorelles; K Casas; Y Hillion; Laurence Faivre; David L Rimoin; A Munnich; Pierre Maroteaux; Martine Le Merrer
Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases.
Journal of medical genetics 2003;40(3):195-200.
2003: Ravi Savarirayan; Susan M White; Frances R Goodman; John M Graham; Martin B Delatycki; Ralph S Lachman; David L Rimoin; David B Everman; Matthew L Warman
Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.
American journal of medical genetics. Part A 2003;117A(2):136-42.
2003: Daniel H Cohn; Nadia Ehtesham; Deborah Krakow; Sheila Unger; Alan L Shanske; Kent Reinker; Berkley R Powell; David L Rimoin
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
American journal of human genetics 2003;72(2):419-28.
2002: Alison M Elliott; John M Graham; Cynthia J R Curry; Tuya Pal; David L Rimoin; Ralph S Lachman
Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings.
American journal of medical genetics 2002;113(4):351-61.
2002: Nadia Ehtesham; Rita M Cantor; Lily M King; Kent Reinker; Berkley R Powell; Alan L Shanske; Sheila Unger; David L Rimoin; Daniel H Cohn
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
American journal of human genetics 2002;71(4):947-51.
2002: Ravi Savarirayan; David L Rimoin
The skeletal dysplasias.
Best practice & research. Clinical endocrinology & metabolism 2002;16(3):547-60.
2002: Ravi Savarirayan; Valérie Cormier-Daire; David J Amor; William R Wilcox; Ralph S Lachman; David L Rimoin
Prenatal cortical hyperostosis (Caffey disease).
Pediatric radiology 2002;32(9):694.
2002: Maaret Ridanpää; Pertti Sistonen; Susanna Rockas; David L Rimoin; Outi Mäkitie; Ilkka Kaitila
Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.
European journal of human genetics : EJHG 2002;10(7):439-47.
2002: Kent Reinker; Y Edward Hsia; David L Rimoin; George Henry; Juliet Yuen; Berkley Powell; William R Wilcox
Orthopaedic manifestations of Marinesco-Sjögren syndrome.
Journal of pediatric orthopedics 2002;22(3):399-403.
2002: Alison M Elliott; Marie Gonzales; Jean-Claude Hoeffel; Martine Le Merrer; Pierre Maroteaux; Férechté Encha-Razavi; Nicole Joye; Colette Berchel; Christian Fliegel; David J Aughton; Kelly Beaudry-Rodgers; Farnez Hasteh; Andreas G Nerlich; William R Wilcox; David L Rimoin; Ralph S Lachman; Peter Freisinger
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
American journal of medical genetics 2002;109(2):139-48.
2001: Sheila Unger; J Korkko; Deborah Krakow; Ralph S Lachman; David L Rimoin; Daniel H Cohn
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
American journal of medical genetics 2001;104(2):140-6.
2001: Valérie Cormier-Daire; R Savarirayan; Ralph S Lachman; Julie Neidich; K Grace; David L Rimoin; William R Wilcox
"Baby rattle" pelvis dysplasia.
American journal of medical genetics 2001;100(1):37-42.
2001: S L Unger; Michael D Briggs; P Holden; Bernhard Zabel; Leena Ala-Kokko; Petteri Paassilta; Jaana Lohiniva; David L Rimoin; Ralph S Lachman; Daniel H Cohn
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype.
Pediatric radiology 2001;31(1):10-8.
2000: Alison M Elliott; E R Roeder; D R Witt; David L Rimoin; Ralph S Lachman
Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases.
American journal of medical genetics 2000;95(5):496-506.
2000: R Savarirayan; Valérie Cormier-Daire; S Unger; Ralph S Lachman; P J Roughley; S F Wagner; David L Rimoin; William R Wilcox
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.
American journal of medical genetics 2000;95(3):193-200.
2000: R Savarirayan; Valérie Cormier-Daire; Cynthia J R Curry; M B Nashelsky; V Rappaport; David L Rimoin; Ralph S Lachman
New mesomelic dysplasia with absent fibulae and triangular tibiae.
American journal of medical genetics 2000;94(1):59-63.
2000: Deborah Krakow; D Salazar; William R Wilcox; David L Rimoin; Daniel H Cohn
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.
European journal of human genetics : EJHG 2000;8(8):645-8.
2000: R Savarirayan; Valérie Cormier-Daire; Ralph S Lachman; David L Rimoin
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type.
Pediatric radiology 2000;30(7):460-3.
2000: Geert R Mortier; M Weis; Lieve Nuytinck; Lily M King; Douglas J Wilkin; Anne De Paepe; Ralph S Lachman; David L Rimoin; D R Eyre; Daniel H Cohn
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.
Journal of medical genetics 2000;37(4):263-71.
1999: Douglas J Wilkin; A S Artz; S South; Ralph S Lachman; David L Rimoin; William R Wilcox; Victor A McKusick; Constantine Straturis; Clair A Francomano; Daniel H Cohn
Small deletions in the type II collagen triple helix produce kniest dysplasia.
American journal of medical genetics 1999;85(2):105-12.
1999: GA Bellus; Michael Bamshad; KA Przylepa; J Dorst; Roland R Lee; O Hurko; Ethylin Jabs; Cynthia J R Curry; William R Wilcox; Ralph S Lachman; David L Rimoin; Clair A Francomano
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.
American journal of medical genetics 1999;85(1):53-65.
1999: Yaoqin Gong; Deborah Krakow; Jose Marcelino; Douglas J Wilkin; David Chitayat; R Babul-Hirji; L Hudgins; C W Cremers; F P Cremers; H G Brunner; Kent Reinker; David L Rimoin; Daniel H Cohn; Frances R Goodman; William Reardon; M Patton; Clair A Francomano; Matthew L Warman
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
Nature genetics 1999;21(3):302-4.
1998: SG Brodie; Ralph S Lachman; Barbara Crandall; MA Fox; David L Rimoin; Daniel H Cohn; William R Wilcox
Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II.
American journal of medical genetics 1998;80(3):247-51.
1998: H Kitoh; Ralph S Lachman; SG Brodie; Pertchoui B Mekikian; David L Rimoin; William R Wilcox
Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type.
Pediatric radiology 1998;28(10):759-63.
1998: M Ahmad; M Faiyaz Ul Haque; Wasim Ahmad; H Abbas; Sayedul Haque; Deborah Krakow; David L Rimoin; R S Lachman; Daniel H Cohn
Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.
American journal of medical genetics 1998;78(5):468-73.
1998: Russell J Fernandes; Douglas J Wilkin; Mary Ann Weis; William R Wilcox; Daniel H Cohn; David L Rimoin; David R Eyre
Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia.
Archives of biochemistry and biophysics 1998;355(2):282-90.
1998: William R Wilcox; P L Tavormina; Deborah Krakow; H Kitoh; Ralph S Lachman; JJ Wasmuth; Leslie Michels Thompson; David L Rimoin
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
American journal of medical genetics 1998;78(3):274-81.
1998: Deborah Krakow; Kent Reinker; B Powell; R Cantor; M A Priore; A Garber; R S Lachman; David L Rimoin; Daniel H Cohn
Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.
American journal of human genetics 1998;63(1):120-4.
1998: William R Wilcox; B C Lucas; B Loebel; R P Bachman; Ralph S Lachman; David L Rimoin
Pacman dysplasia: report of two affected sibs.
American journal of medical genetics 1998;77(4):272-6.
1998: Mary Ann Weis; Douglas J Wilkin; H J Kim; William R Wilcox; Ralph S Lachman; David L Rimoin; Daniel H Cohn; David R Eyre
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.
The Journal of biological chemistry 1998;273(8):4761-8.
1998: Michael D Briggs; Geert R Mortier; William G Cole; Lily M King; S S Golik; J Bonaventure; Lieve Nuytinck; Anne De Paepe; Jules G Leroy; L Biesecker; MH Lipson; William R Wilcox; Ralph S Lachman; David L Rimoin; RG Knowlton; Daniel H Cohn
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.
American journal of human genetics 1998;62(2):311-9.
1998: Asha Moudgil; Arvind Bagga; Elaine Kamil; David L Rimoin; R S Lachman; Arthur H Cohen; Stanley C Jordan
Nephronophthisis associated with Ellis-van Creveld syndrome.
Pediatric nephrology (Berlin, Germany) 1998;12(1):20-2.
1997: D Chitayat; Arthur Grix; J Williamson Balfe; J S Abramowicz; J Garza; C T Fong; M M Silver; Devereux N Saller; G H Bresnick; A Giedion; Ralph S Lachman; David L Rimoin
Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families.
American journal of medical genetics 1997;73(3):279-85.
1997: Geert R Mortier; David L Rimoin; Ralph S Lachman
The scapula as a window to the diagnosis of skeletal dysplasias.
Pediatric radiology 1997;27(5):447-51.
1997: AHM M Huq; Richard M Braverman; F Greenberg; Carlos A Bacino; David L Rimoin; R S Lachman; M L Levin
The Pointer syndrome: a new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties.
American journal of medical genetics 1997;68(2):225-30.
1996: Mordechai Shohat; D Tick; S Barakat; X Bu; Shlomo Melmed; David L Rimoin
Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia.
The Journal of clinical endocrinology and metabolism 1996;81(11):4033-7.
1996: Daniel H Cohn; Michael D Briggs; Lily M King; David L Rimoin; William R Wilcox; Ralph S Lachman; R G Knowlton
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
Annals of the New York Academy of Sciences 1996;785():188-94.
1996: Geert R Mortier; Ralph S Lachman; M Bocian; David L Rimoin
Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.
American journal of medical genetics 1996;61(4):310-9.
1995: P L Tavormina; David L Rimoin; Daniel H Cohn; Y Z Zhu; R Shiang; JJ Wasmuth
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
Human molecular genetics 1995;4(11):2175-7.
1995: George E Tiller; P A Polumbo; Mary Ann Weis; R Bogaert; Ralph S Lachman; Daniel H Cohn; David L Rimoin; David R Eyre
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
Nature genetics 1995;11(1):87-9.
1995: Michael D Briggs; S M Hoffman; Lily M King; Anne S Olsen; Harvey W Mohrenweiser; Jules G Leroy; Geert R Mortier; David L Rimoin; Ralph S Lachman; E S Gaines
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.
Nature genetics 1995;10(3):330-6.
1995: P L Tavormina; R Shiang; Leslie Michels Thompson; Y Z Zhu; Douglas J Wilkin; Ralph S Lachman; William R Wilcox; David L Rimoin; Daniel H Cohn; JJ Wasmuth
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
Nature genetics 1995;9(3):321-8.
1995: George E Tiller; Mary Ann Weis; P A Polumbo; H E Gruber; David L Rimoin; Daniel H Cohn; David R Eyre
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
American journal of human genetics 1995;56(2):388-95.
1995: Geert R Mortier; Douglas J Wilkin; William R Wilcox; David L Rimoin; Ralph S Lachman; David R Eyre; Daniel H Cohn
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
Human molecular genetics 1995;4(2):285-8.
1994: R Bogaert; Douglas J Wilkin; W R Wilcox; R Lachman; David L Rimoin; Daniel H Cohn; David R Eyre
Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.
American journal of human genetics 1994;55(6):1128-36.
1994: Douglas J Wilkin; R Bogaert; Ralph S Lachman; David L Rimoin; David R Eyre; Daniel H Cohn
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
Human molecular genetics 1994;3(11):1999-2003.
1994: David L Rimoin; I M Rasmussen; Michael D Briggs; P J Roughley; Helen E Gruber; Matthew L Warman; B R Olsen; Y Edward Hsia; J Yuen; Kent Reinker
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.
Human genetics 1994;93(3):236-42.
1994: David L Rimoin; Daniel H Cohn; D Eyre
Clinical--molecular correlations in the skeletal dysplasias.
Pediatric radiology 1994;24(6):425-6.
1993: Michael D Briggs; I M Rasmussen; J L Weber; J Yuen; Kent Reinker; A P Garber; David L Rimoin; Daniel H Cohn
Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19.
Genomics 1993;18(3):656-60.
1993: Carlos A Bacino; Lawrence D Platt; A Garber; D Carlson; Samuel H Pepkowitz; Ralph S Lachman; R Sharony; David L Rimoin; John M Graham
Fetal akinesia/hypokinesia sequence: prenatal diagnosis and intra-familial variability.
Prenatal diagnosis 1993;13(11):1011-9.
1993: R Sharony; C Browne; Ralph S Lachman; David L Rimoin
Prenatal diagnosis of the skeletal dysplasias.
American journal of obstetrics and gynecology 1993;169(3):668-75.
1993: M Shohat; R Lachman; R Carmi; J Bar Ziv; David L Rimoin
New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin.
American journal of medical genetics 1993;46(4):358-62.
1993: Mordechai Shohat; David L Rimoin; H E Gruber; R Lachman
New epiphyseal stippling syndrome with osteoclastic hyperplasia.
American journal of medical genetics 1993;45(5):558-61.
1993: Mordechai Shohat; E Flaum; S R Cobb; R Lachman; C Rubin; C Ash; David L Rimoin
Hearing loss and temporal bone structure in achondroplasia.
American journal of medical genetics 1993;45(5):548-51.
1993: Z Borochowitz; L O Langer; H E Gruber; R Lachman; M B Katznelson; David L Rimoin
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.
American journal of medical genetics 1993;45(3):320-6.
1992: R Bogaert; George E Tiller; Mary Ann Weis; H E Gruber; David L Rimoin; Daniel H Cohn; David R Eyre
An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.
The Journal of biological chemistry 1992;267(31):22522-6.
1992: Ralph S Lachman; George E Tiller; J M Graham; David L Rimoin
Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update.
European journal of radiology 1992;14(1):1-10.
1992: Z C Borenstein; C B Hyman; David L Rimoin; C L Chapman; R Lachman
Case report 744. Deferoxamine-induced skeletal dysplasia.
Skeletal radiology 1992;21(8):534-7.
1991: Z C Borenstein; J Mink; William Oppenheim; David L Rimoin; R S Lachman
Case report 655: Congenital glenoid dysplasia (congenital hypoplasia of the glenoid neck and fossa of the scapula, with accompanied deformity of humeral head, coracoid process, and acromion).
Skeletal radiology 1991;20(2):134-6.
1990: Helen E Gruber; Ralph S Lachman; David L Rimoin
Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis.
Journal of anatomy 1990;173():69-75.
1990: Mordechai Shohat; Tamy Shohat; David L Rimoin; T Mohandas; John R Heckenlively; R Ellen Magenis; M B Davidson; Julie R Korenberg
Rearrangement of chromosome 15 in the region q11.2----q12 in an individual with obesity syndrome and her normal mother.
American journal of medical genetics 1990;37(2):173-7.
1990: Mordechai Shohat; H E Gruber; R A Pagon; L J Witcoff; R Lachman; D Ferry; E Flaum; David L Rimoin
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea.
The Journal of pediatrics 1990;117(2 Pt 1):227-32.
1990: Helen E Gruber; C R Greenberg; Ralph S Lachman; David L Rimoin
Ultrastructural abnormalities in bone and calcifying cartilage in two siblings with a newly described recessive lethal chondrodysplasia.
Ultrastructural pathology 1990;14(4):343-55.
1990: H J Stern; J M Graham; Ralph S Lachman; W Horton; P M Bernini; P K Spiegel; J Bodurtha; E J Ives; M Bocian; David L Rimoin
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.
American journal of medical genetics 1990;36(2):183-95.
1990: George E Tiller; David L Rimoin; L W Murray; Daniel H Cohn
Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(10):3889-93.
1989: Mordechai Shohat; R Lachman; H E Gruber; David L Rimoin
Brachyolmia: radiographic and genetic evidence of heterogeneity.
American journal of medical genetics 1989;33(2):209-19.
1989: Helen E Gruber; David L Rimoin
Quantitative histology of cartilage cell columns in the human costochondral junction: findings in newborn and pediatric subjects.
Pediatric research 1989;25(2):202-4.
1989: Mordechai Shohat; R Lachman; David L Rimoin
Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia.
The Journal of pediatrics 1989;114(2):239-43.
1988: P L Robinson; M Shohat; R M Winter; W J Conte; D Gordon-Nesbitt; M Feingold; Z Laron; David L Rimoin
A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome).
The Journal of pediatrics 1988;113(4):703-6.
1988: L M Randolph; Mordechai Shohat; D Miller; R Lachman; David L Rimoin
Achondroplasia with ankylosing spondylitis.
American journal of medical genetics 1988;31(1):117-21.
1988: Ralph S Lachman; David L Rimoin; J Spranger
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature.
Pediatric radiology 1988;18(2):93-102.
1988: Z Borochowitz; R Lachman; G E Adomian; G Spear; K Jones; David L Rimoin
Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups.
The Journal of pediatrics 1988;112(1):23-31.
1988: David L Rimoin; D J Eteson; D O Sillence
Comparisons and correlations of skeletal defects in mouse and human.
Pathology and immunopathology research 1988;7(1-2):139-45.
1988: David L Rimoin
Clinical variability in achondroplasia.
Basic life sciences 1988;48():123-7.
1987: K A Aleck; A Grix; C Clericuzio; P Kaplan; G E Adomian; R Lachman; David L Rimoin
Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity.
American journal of medical genetics 1987;27(2):295-312.
1987: L P Robinson; N J Worthen; R S Lachman; G E Adomian; David L Rimoin
Prenatal diagnosis of osteogenesis imperfecta type III.
Prenatal diagnosis 1987;7(1):7-15.
1986: B K Burton; T Sumner; L O Langer; David L Rimoin; G E Adomian; R S Lachman; J F Nicastro; D L Kelly; R Grey Weaver
A new skeletal dysplasia: clinical, radiologic, and pathologic findings.
The Journal of pediatrics 1986;109(4):642-8.
1986: D J Eteson; Giampiero Beluffi; G R Burgio; C Belloni; R S Lachman; David L Rimoin
Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia.
The Journal of pediatrics 1986;109(4):635-41.
1986: Z Borochowitz; K L Jones; R Silbey; G Adomian; R Lachman; David L Rimoin
A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.
American journal of medical genetics 1986;25(1):47-59.
1986: Z Borochowitz; A Ornoy; R Lachman; David L Rimoin
Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity.
American journal of medical genetics 1986;24(2):273-88.
1985: A Ornoy; G E Adomian; D J Eteson; R E Burgeson; David L Rimoin
The role of mesenchyme-like tissue in the pathogenesis of thanatophoric dysplasia.
American journal of medical genetics 1985;21(4):613-30.
1985: A G Hunter; David L Rimoin; U M Koch; G J MacDonald; D M Cox; R S Lachman; G Adomian
Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation.
American journal of medical genetics 1985;21(3):581-9.
1985: D J Eteson; D O Sillence; R S Lachman; David L Rimoin
The mouse skeletal mutants: models for the human skeletal dysplasias.
Progress in clinical and biological research 1985;187():141-51.
1984: D J Eteson; G E Adomian; A Ornoy; T Koide; Y Sugiura; A Calabro; S Lungarotti; Pierpaolo Mastroiacovo; R S Lachman; David L Rimoin
Fibrochondrogenesis: radiologic and histologic studies.
American journal of medical genetics 1984;19(2):277-90.
1984: M Lipson; J Waskey; J Rice; G Adomian; R Lachman; R Filly; David L Rimoin
Prenatal diagnosis of asphyxiating thoracic dysplasia.
American journal of medical genetics 1984;18(2):273-7.
1983: S M Sconyers; David L Rimoin; R S Lachman; G E Adomian; B F Crandall
A distinct chondrodysplasia resembling Kniest dysplasia: clinical, roentgenographic, histologic, and ultrastructural findings.
The Journal of pediatrics 1983;103(6):898-904.
1981: R Lachman; D Sillence; David L Rimoin; W Horton; J Hall; C Scott; J Spranger; L Langer
Diastrophic dysplasia: the death of a variant.
Radiology 1981;140(1):79-86.