Ralph S Lachman

Ralph S Lachman

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Ralph S Lachman

Ralph S Lachman

Publications by authors named "Ralph S Lachman"

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Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Genome Res 2018 04 22;28(4):423-431. Epub 2018 Mar 22.

Baxter Laboratory for Stem Cell Biology, Department of Microbiology and Immunology, Stanford University, Stanford, California 94305, USA.

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http://dx.doi.org/10.1101/gr.223693.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880234PMC
April 2018

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

Am J Med Genet A 2017 Sep 25;173(9):2415-2421. Epub 2017 Jul 25.

Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.38349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5564418PMC
September 2017

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

Am J Med Genet A 2016 12 17;170(12):3298-3302. Epub 2016 Aug 17.

Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles.

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http://dx.doi.org/10.1002/ajmg.a.37942DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5115972PMC
December 2016

Early characteristic radiographic changes in mucolipidosis II.

Pediatr Radiol 2016 Nov 15;46(12):1713-1720. Epub 2016 Aug 15.

Pediatric Radiology, Lucile Packard Children's Hospital and Stanford University, 725 Welch Road, Palo Alto, CA, 94302, USA.

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http://dx.doi.org/10.1007/s00247-016-3673-0DOI Listing
November 2016

A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

Am J Med Genet A 2015 Oct 22;167A(10):2470-3. Epub 2015 May 22.

Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.37173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5036935PMC
October 2015

Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia.

Pediatr Radiol 2015 Jul 23;45(7):1066-71. Epub 2014 Nov 23.

Division of Pediatric Radiology, Department of Radiology, Montefiore Medical Center, 111 E. 210 St., Bronx, NY, 10467, USA,

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http://link.springer.com/10.1007/s00247-014-3231-6
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http://dx.doi.org/10.1007/s00247-014-3231-6DOI Listing
July 2015

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.

Nat Commun 2015 Jun 16;6:7092. Epub 2015 Jun 16.

1] Department of Human Genetics, University of California, Los Angeles, Los Angeles, California 90095, USA [2] Department of Orthopaedic Surgery and Orthopaedic Institute for Children, University of California, Los Angeles, Los Angeles, California 90095, USA [3] International Skeletal Dysplasia Registry, University of California, Los Angeles, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1038/ncomms8092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470332PMC
June 2015

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

Mol Genet Genomic Med 2014 Nov 5;2(6):497-503. Epub 2014 Aug 5.

Department of Human Genetics, Emory University Atlanta, Georgia, 30322 ; Medical Genetics Institute, Cedars-Sinai Medical Center Los Angeles, California ; Department of Pediatrics, UCLA School of Medicine Los Angeles, California.

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http://dx.doi.org/10.1002/mgg3.96DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303219PMC
November 2014

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

Am J Med Genet A 2014 Sep 20;164A(9):2407-11. Epub 2014 Jun 20.

Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.36640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134718PMC
September 2014

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.

J Inherit Metab Dis 2014 Mar 10;37(2):277-87. Epub 2013 Oct 10.

Children's Hospital & Research Center Oakland, 747 52nd Street, Oakland, CA, USA,

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http://dx.doi.org/10.1007/s10545-013-9654-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976509PMC
March 2014

Ellis-van Creveld syndrome: its history.

Pediatr Radiol 2013 Aug 12;43(8):1030-6. Epub 2013 Jun 12.

Division of Pediatric Surgery, Department of Surgery, Weill Cornell Medical College, New York Presbyterian Hospital, New York, NY 10065, USA.

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http://dx.doi.org/10.1007/s00247-013-2709-yDOI Listing
August 2013

Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues.

J Appl Genet 2013 May 31;54(2):231-4. Epub 2013 Jan 31.

Division of Internal Medicine and Medical Genetics Institute, Rambam Medical Center, Haifa, Israel.

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http://dx.doi.org/10.1007/s13353-013-0136-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4068338PMC
May 2013

Human long bone development in vivo: analysis of the distal femoral epimetaphysis on MR images of fetuses.

Radiology 2013 May 7;267(2):570-80. Epub 2013 Feb 7.

Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria.

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http://pubs.rsna.org/doi/10.1148/radiol.13112441
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http://dx.doi.org/10.1148/radiol.13112441DOI Listing
May 2013

Radiological aspects of prenatal-onset cortical hyperostosis [Caffey Dysplasia].

Eur J Radiol 2012 Apr 2;81(4):e565-72. Epub 2011 Jul 2.

International Skeletal Dysplasia Registry, Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048, USA.

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http://dx.doi.org/10.1016/j.ejrad.2011.06.049DOI Listing
April 2012

A review of the principles of radiological assessment of skeletal dysplasias.

J Clin Res Pediatr Endocrinol 2011 ;3(4):163-78

Pediatric Genetics Unit, Department of Pediatrics, Faculty of Medicine, Acibadem University, Istanbul, Turkey.

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http://dx.doi.org/10.4274/jcrpe.463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245489PMC
April 2012

Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.

Am J Med Genet A 2012 Apr 14;158A(4):938-41. Epub 2012 Mar 14.

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1002/ajmg.a.35261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314117PMC
April 2012

Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz.

Pediatr Radiol 2012 Apr 18;42(4):475-80. Epub 2012 Mar 18.

Division of Pediatric Surgery, Department of Surgery, Komansky Center for Children's Health, Weill Cornell Medical College, New York Presbyterian, 525 E. 68th St., New York, NY 10065, USA.

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http://link.springer.com/10.1007/s00247-012-2364-8
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http://dx.doi.org/10.1007/s00247-012-2364-8DOI Listing
April 2012

Exome sequencing identifies PDE4D mutations in acrodysostosis.

Am J Hum Genet 2012 Apr 29;90(4):746-51. Epub 2012 Mar 29.

Department of Human Genetics, University of California-Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322224PMC
April 2012

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

Pediatr Radiol 2012 Jan 24;42(1):15-23. Epub 2011 Aug 24.

International Skeletal Dysplasia Registry, Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048, USA.

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http://link.springer.com/10.1007/s00247-011-2229-6
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http://dx.doi.org/10.1007/s00247-011-2229-6DOI Listing
January 2012

Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.

Am J Med Genet A 2011 Jan;155A(1):174-9

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202-5251, USA.

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http://dx.doi.org/10.1002/ajmg.a.33762DOI Listing
January 2011

New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies.

Am J Med Genet A 2010 Aug;152A(8):1915-8

Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.

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http://dx.doi.org/10.1002/ajmg.a.33488DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3097391PMC
August 2010

The Erlenmeyer flask bone deformity in the skeletal dysplasias.

Am J Med Genet A 2009 Jun;149A(6):1334-45

Clinical Genetics, Department of Pediatrics, Riyadh Medical Complex Hospital, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.32253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2836257PMC
June 2009

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.

Genet Med 2009 Feb;11(2):127-33

Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine, Los Angeles, California, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181971ccbDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2832320PMC
February 2009

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

Am J Med Genet A 2008 Aug;146A(15):1917-24

Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1002/ajmg.a.32269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2713784PMC
August 2008

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

Am J Med Genet A 2008 Jul;146A(13):1682-6

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.32313DOI Listing
July 2008

Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings.

Am J Med Genet A 2007 Nov;143A(22):2706-11

Division of Medical Genetics, Department of Preventive Medicine, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA.

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http://dx.doi.org/10.1002/ajmg.a.32007DOI Listing
November 2007

The skeletal dysplasias: clinical-molecular correlations.

Ann N Y Acad Sci 2007 Nov;1117:302-9

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, 665W, Los Angeles, CA 90048, USA.

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http://doi.wiley.com/10.1196/annals.1402.072
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http://dx.doi.org/10.1196/annals.1402.072DOI Listing
November 2007

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

Am J Med Genet A 2007 Oct;143A(19):2292-302

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.31934DOI Listing
October 2007

Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006).

Am J Med Genet A 2007 Jun;143A(11):1159-68

Clinical Genetics Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.31711DOI Listing
June 2007

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome.

Pediatr Radiol 2006 Sep 20;36(9):970-3. Epub 2006 May 20.

Clinical Genetics Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00247-006-0217-zDOI Listing
September 2006

Brachydactylic multiple delta phalanges plus syndrome.

Am J Med Genet A 2005 Sep;138(1):41-4

Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, 94143-0706, USA.

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http://dx.doi.org/10.1002/ajmg.a.30873DOI Listing
September 2005

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

Am J Med Genet A 2005 Jul;136(3):233-41

UCLA School of Medicine, Los Angeles, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.30805DOI Listing
July 2005

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

Am J Med Genet A 2005 Jun;135(3):333

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1002/ajmg.a.30717DOI Listing
June 2005

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

Pediatr Radiol 2005 Feb 21;35(2):116-23. Epub 2004 Oct 21.

Department of Pediatrics, International Skeletal Dysplasia Registry, UCLA School of Medicine, Radiological Services, 405 Hilgard Ave., Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1007/s00247-004-1323-4DOI Listing
February 2005

Hand involvement in Schmid metaphyseal chondrodysplasia.

Am J Med Genet A 2005 Jan;132A(2):191-3

International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

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http://dx.doi.org/10.1002/ajmg.a.30433DOI Listing
January 2005

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.

Am J Med Genet A 2004 Sep;129A(3):235-47

Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1002/ajmg.a.30148DOI Listing
September 2004

Occipital projections in the skeletal dysplasias.

Pediatr Radiol 2004 Jul 24;34(7):530-4. Epub 2004 Apr 24.

International Skeletal Dysplasia Registry, Department of Pediatrics and the Medical Genetics-Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

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http://dx.doi.org/10.1007/s00247-004-1191-yDOI Listing
July 2004

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

Hum Genet 2003 Jul 3;113(1):1-9. Epub 2003 Apr 3.

McKusick-Nathans Institute of Genetic Medicine, Center for Craniofacial Development and Disorders, Department of Pediatrics, The Johns Hopkins University School of Medicine, MD 21287-3914, Baltimore, USA.

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http://link.springer.com/content/pdf/10.1007/s00439-003-0932
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http://link.springer.de/link/service/journals/00439/contents
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http://dx.doi.org/10.1007/s00439-003-0932-6DOI Listing
July 2003

A distinctive type of metaphyseal chondrodysplasia with characteristic thickening of the distal ulna and radius: possible metaphyseal chondrodysplasia-Rosenberg.

Am J Med Genet A 2003 May;119A(1):50-6

Paediatric Endocrine Section, Department of Paediatrics, National University of Singapore, Singapore.

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http://dx.doi.org/10.1002/ajmg.a.20074DOI Listing
May 2003

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers.

Am J Med Genet A 2003 Apr;118A(3):267-73

Department of Medical Genetics, Steven Spielberg Pediatric Research Center, Burns and Allen Research Institute, University of California, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1002/ajmg.a.10143DOI Listing
April 2003

Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features.

Pediatr Radiol 2003 Apr 5;33(4):256-60. Epub 2003 Feb 5.

Department of Radiology, Children's Hospital of the King's Daughters, Norfolk, VA 23507, USA.

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http://dx.doi.org/10.1007/s00247-002-0859-4DOI Listing
April 2003

Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings.

Am J Med Genet 2002 Dec;113(4):351-61

International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1002/ajmg.b.10656DOI Listing
December 2002

Ossification sequence in infants who die during the perinatal period: population-based references.

Radiology 2002 Oct;225(1):240-4

Department of Radiology, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1148/radiol.2251011130DOI Listing
October 2002

Skeletal measurements among infants who die during the perinatal period: new population-based reference.

Pediatr Radiol 2002 Sep 26;32(9):667-73. Epub 2002 Jul 26.

Department of Radiology, Haukeland University Hospital, 5021 Bergen, Norway.

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http://link.springer.com/10.1007/s00247-001-0627-x
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http://dx.doi.org/10.1007/s00247-001-0627-xDOI Listing
September 2002