Deborah Krakow

Deborah Krakow

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Deborah Krakow

Deborah Krakow

Publications by authors named "Deborah Krakow"

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Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.

Eur J Med Genet 2019 Dec 26;62(12):103606. Epub 2018 Dec 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ejmg.2018.12.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594916PMC
December 2019

Dominant-negative SOX9 mutations in campomelic dysplasia.

Hum Mutat 2019 Dec 26;40(12):2344-2352. Epub 2019 Aug 26.

Department of Orthopaedic Surgery, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/humu.23888DOI Listing
December 2019

Nosology and classification of genetic skeletal disorders: 2019 revision.

Am J Med Genet A 2019 Dec 21;179(12):2393-2419. Epub 2019 Oct 21.

Orthopaedic Research Laboratories, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.61366DOI Listing
December 2019

Fetal cardiac rhabdomyomas treated with maternal sirolimus.

Prenat Diagn 2019 Nov 19. Epub 2019 Nov 19.

Department of Obstetrics and Gynecology, University of California at Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/pd.5613DOI Listing
November 2019

First-Trimester Abdominal Circumference (Versus Crown Rump Length) Improves Precision in Inter- and Intraobserver Variability.

J Ultrasound Med 2019 Aug 28;38(8):2161-2167. Epub 2018 Dec 28.

Department of Obstetrics and Gynecology, Los Angeles, California.

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http://dx.doi.org/10.1002/jum.14913DOI Listing
August 2019

The α2 chain of type IX collagen is essential for type IX collagen biosynthesis.

Am J Med Genet A 2019 Aug 3;179(8):1672-1677. Epub 2019 Jun 3.

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.61208DOI Listing
August 2019

A new biometric: In utero growth curves for metacarpal and phalangeal lengths reveal an embryonic patterning ratio.

Prenat Diagn 2019 02 11;39(3):200-208. Epub 2019 Feb 11.

Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

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http://dx.doi.org/10.1002/pd.5397DOI Listing
February 2019

The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling.

Sci Transl Med 2018 09;10(459)

Department of Orthopaedic Surgery, University of California-Los Angeles, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1126/scitranslmed.aat9356DOI Listing
September 2018

NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot.

Am J Med Genet A 2018 03 24;176(3):649-656. Epub 2018 Jan 24.

Department of Orthopedic Surgery, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.38600DOI Listing
March 2018

Proteomic analyses of signalling complexes associated with receptor tyrosine kinase identify novel members of fibroblast growth factor receptor 3 interactome.

Cell Signal 2018 Jan 13;42:144-154. Epub 2017 Oct 13.

Department of Biology, Faculty of Medicine, Masaryk University, 62500 Brno, Czech Republic; International Clinical Research Center, St. Anne's University Hospital, 65691 Brno, Czech Republic; Department of Human Genetics and Orthopaedic Surgery, University of California Los Angeles, California 90095, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08986568173027
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http://dx.doi.org/10.1016/j.cellsig.2017.10.003DOI Listing
January 2018

Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network.

BMC Genomics 2017 Dec 20;18(1):983. Epub 2017 Dec 20.

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

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http://dx.doi.org/10.1186/s12864-017-4378-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738906PMC
December 2017

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

Osteogenesis imperfecta.

Nat Rev Dis Primers 2017 Aug 18;3:17052. Epub 2017 Aug 18.

Children's Hospital, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1038/nrdp.2017.52DOI Listing
August 2017

A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen.

J Bone Miner Res 2017 Jun 6;32(6):1309-1319. Epub 2017 Apr 6.

Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1002/jbmr.3095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5466459PMC
June 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

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.

PLoS Genet 2016 09 13;12(9):e1006307. Epub 2016 Sep 13.

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

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http://dx.doi.org/10.1371/journal.pgen.1006307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021280PMC
September 2016

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.

Sci Rep 2016 Sep 26;6:34232. Epub 2016 Sep 26.

Department of Orthopaedic Surgery, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, California, 90095, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035930PMC
http://dx.doi.org/10.1038/srep34232DOI Listing
September 2016

TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions.

PLoS Genet 2016 Mar 28;12(3):e1005936. Epub 2016 Mar 28.

Department of Human Genetics, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005936DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4809497PMC
March 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

Detection of Y chromosome material in a 46,XX male with SRY translocation: novel application of cell-free fetal DNA testing.

Prenat Diagn 2015 Aug 2;35(8):823-5. Epub 2015 Jun 2.

Department of Obstetrics and Gynecology, UCLA, Los Angeles, CA, USA.

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http://dx.doi.org/10.1002/pd.4604DOI Listing
August 2015

Skeletal dysplasias.

Authors:
Deborah Krakow

Clin Perinatol 2015 Jun 8;42(2):301-19, viii. Epub 2015 Apr 8.

Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, BSRB/OHRC 615 Charles E. Young Drive South, Room 410, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine at UCLA, BSRB/OHRC 615 Charles E. Young Drive South, Room 410, Los Angeles, CA 90095, USA; Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, BSRB/OHRC 615 Charles E. Young Drive South, Room 410, Los Angeles, CA 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clp.2015.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4456691PMC
June 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

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Am J Hum Genet 2015 May;96(5):841-9

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570285PMC
May 2015

HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.

Hum Mol Genet 2015 Apr 15;24(7):1918-28. Epub 2014 Dec 15.

Department of Orthopaedic Surgery, Department of Molecular, Cell, and Developmental Biology, University of California at Los Angeles, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1093/hmg/ddu608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355024PMC
April 2015

Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription.

Hum Mol Genet 2014 Nov 6;23(21):5659-71. Epub 2014 Jun 6.

Center for Craniofacial Molecular Biology, Ostrow School of Dentistry and Department of Biochemistry and Molecular Biology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA,

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http://dx.doi.org/10.1093/hmg/ddu282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189901PMC
November 2014

Connective tissue alterations in Fkbp10-/- mice.

Hum Mol Genet 2014 Sep 28;23(18):4822-31. Epub 2014 Apr 28.

Department of Orthopaedic Surgery and Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1093/hmg/ddu197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4140464PMC
September 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

Routine measurement of amniotic fluid alpha-fetoprotein and acetylcholinesterase: the need for a reevaluation.

Am J Obstet Gynecol 2014 Aug 11;211(2):139.e1-6. Epub 2014 Feb 11.

Department of Obstetrics and Gynecology, David Geffen School of Medicine at the University of California, Los Angeles, CA; Center for Fetal Medicine and Women's Ultrasound, Los Angeles, CA. Electronic address:

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http://dx.doi.org/10.1016/j.ajog.2014.02.005DOI Listing
August 2014

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Am J Hum Genet 2013 Nov 31;93(5):926-31. Epub 2013 Oct 31.

Department of Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824112PMC
November 2013

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

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

Am J Med Genet A 2012 Feb 13;158A(2):309-14. Epub 2012 Jan 13.

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

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http://doi.wiley.com/10.1002/ajmg.a.34406
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http://dx.doi.org/10.1002/ajmg.a.34406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3264686PMC
February 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

Nosology and classification of genetic skeletal disorders: 2010 revision.

Am J Med Genet A 2011 May 15;155A(5):943-68. Epub 2011 Mar 15.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, The Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.33909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3166781PMC
May 2011

The skeletal dysplasias.

Genet Med 2010 Jun;12(6):327-41

Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181daae9bDOI Listing
June 2010

Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

Am J Med Genet A 2010 May;152A(5):1169-77

Department of Orthopedic Surgery, University of California at Los Angeles, Los Angeles, CA 90048, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33392
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http://dx.doi.org/10.1002/ajmg.a.33392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169191PMC
May 2010

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?

Am J Med Genet A 2010 Mar;152A(3):539-46

Département de Génétique et INSERM U781, AP-HP, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.33277DOI Listing
March 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

Polyvalvular disease in a fetus with normal chromosomes.

Congenit Heart Dis 2007 May-Jun;2(3):214-7

Cedars-Sinai Medical Center-Pediatric Cardiology, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1111/j.1747-0803.2007.00101.xDOI Listing
June 2008

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

Am J Med Genet A 2008 May;146A(9):1230-3

Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.32303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2637032PMC
May 2008

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.

Hum Mol Genet 2008 Mar 17;17(5):631-41. Epub 2007 Jul 17.

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, SSB-371, Los Angeles, CA 90048, USA.

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http://dx.doi.org/10.1093/hmg/ddm188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680151PMC
March 2008

Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.

Am J Med Genet A 2008 Mar;146A(6):779-83

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.32230
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http://dx.doi.org/10.1002/ajmg.a.32230DOI Listing
March 2008

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

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

Fibroblast growth factors 1, 2, 17, and 19 are the predominant FGF ligands expressed in human fetal growth plate cartilage.

Pediatr Res 2007 Mar;61(3):267-72

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

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http://www.nature.com/doifinder/10.1203/pdr.0b013e318030d157
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http://dx.doi.org/10.1203/pdr.0b013e318030d157DOI Listing
March 2007

Dominance of SOX9 function over RUNX2 during skeletogenesis.

Proc Natl Acad Sci U S A 2006 Dec 1;103(50):19004-9. Epub 2006 Dec 1.

Howard Hughes Medical Institute and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1073/pnas.0605170103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1748167PMC
December 2006