thanatophoric dysplasia

Summary

Summary: A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.

Top Publications

  1. pmc A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia
    Min Jin
    Center of Bone Metabolism and Repair, State Key Laboratory of Trauma, Burns and Combined Injury, Institute of Surgery Research, Dapital Hospital, Third Military University, Chongqing, China
    Hum Mol Genet 21:5443-55. 2012
  2. ncbi The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US
    D K Waller
    Houston Health Science Center, The University of Texas, Houston, Texas 77030, USA
    Am J Med Genet A 146:2385-9. 2008
  3. ncbi Disruption of a Sox9-β-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II
    Chia Yi Shung
    Shriners Hospitals for Children Portland, Portland, OR 97239, USA
    Hum Mol Genet 21:4628-44. 2012
  4. ncbi Thanatophoric dysplasia: role of 3-dimensional sonography
    Pei Yin Tsai
    Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, Tainan 70428, Taiwan
    J Clin Ultrasound 37:31-4. 2009
  5. ncbi Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation
    P De Biasio
    Department of Obstetrics and Gynaecology, G Gaslini Institute, University of Genova, Genova, Italy
    Prenat Diagn 20:835-7. 2000
  6. ncbi Early prenatal diagnosis of skeletal anomalies
    Asma Khalil
    University College Hospitals London NHS Foundation Trust, London, UK
    Prenat Diagn 31:115-24. 2011
  7. ncbi Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia
    W R Wilcox
    Medical Genetics Birth Defects Center, Steven Spielberg Pediatrics Research Center, Cedars Sinai Burns and Allen Research Institute, Los Angeles, California 90048, USA
    Am J Med Genet 78:274-81. 1998
  8. ncbi The incidence of thanatophoric dysplasia mutations in FGFR3 gene is higher in low-grade or superficial bladder carcinomas
    T Kimura
    Department of Urology, Institute of DNA Medicine, Jikei University, School of Medicine, Tokyo, Japan
    Cancer 92:2555-61. 2001
  9. ncbi Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
    M C Naski
    Department of Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Nat Genet 13:233-7. 1996
  10. ncbi Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells
    Nakisa Nowroozi
    Department of Psychiatry and Human Behavior, 2121 Gillespie, University of California at Irvine, Irvine, CA 92697, USA
    Hum Mol Genet 14:1529-38. 2005

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Scientific Experts

Detail Information

Publications151 found, 100 shown here

  1. pmc A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia
    Min Jin
    Center of Bone Metabolism and Repair, State Key Laboratory of Trauma, Burns and Combined Injury, Institute of Surgery Research, Dapital Hospital, Third Military University, Chongqing, China
    Hum Mol Genet 21:5443-55. 2012
    ..to several types of human skeletal dysplasia syndromes including achondroplasia, hypochondroplasia and thanatophoric dysplasia (TD). Currently, there are no effective treatments for these skeletal dysplasia diseases...
  2. ncbi The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US
    D K Waller
    Houston Health Science Center, The University of Texas, Houston, Texas 77030, USA
    Am J Med Genet A 146:2385-9. 2008
    ..36 to 0.60 per 10,000 livebirths (1/27,780-1/16,670 livebirths). The prevalence of thanatophoric dysplasia ranged from 0.21 to 0.30 per 10,000 livebirths (1/33,330-1/47,620 livebirths)...
  3. ncbi Disruption of a Sox9-β-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II
    Chia Yi Shung
    Shriners Hospitals for Children Portland, Portland, OR 97239, USA
    Hum Mol Genet 21:4628-44. 2012
    ..Using a mouse model of thanatophoric dysplasia type II in which FGFR3(K650E) expression was directed to the appendicular skeleton, we show that the ..
  4. ncbi Thanatophoric dysplasia: role of 3-dimensional sonography
    Pei Yin Tsai
    Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, Tainan 70428, Taiwan
    J Clin Ultrasound 37:31-4. 2009
    Fetal thanatophoric dysplasia (TD) is a lethal skeletal dysplasia. Therefore, antenatal diagnosis of TD is mandatory in routine obstetrical care. However, because TD is relatively rare, prenatal detection is not an easy task...
  5. ncbi Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation
    P De Biasio
    Department of Obstetrics and Gynaecology, G Gaslini Institute, University of Genova, Genova, Italy
    Prenat Diagn 20:835-7. 2000
    b>Thanatophoric dysplasia is the most common type of lethal skeletal dysplasia. It can usually be diagnosed with ultrasound, but differential diagnosis with other osteochondrodysplasias is not always possible...
  6. ncbi Early prenatal diagnosis of skeletal anomalies
    Asma Khalil
    University College Hospitals London NHS Foundation Trust, London, UK
    Prenat Diagn 31:115-24. 2011
    ..To review experience of early prenatal diagnosis of skeletal dysplasias, and to explore diagnostic accuracy and improve management...
  7. ncbi Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia
    W R Wilcox
    Medical Genetics Birth Defects Center, Steven Spielberg Pediatrics Research Center, Cedars Sinai Burns and Allen Research Institute, Los Angeles, California 90048, USA
    Am J Med Genet 78:274-81. 1998
    Various mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have recently been reported in thanatophoric dysplasia (TD)...
  8. ncbi The incidence of thanatophoric dysplasia mutations in FGFR3 gene is higher in low-grade or superficial bladder carcinomas
    T Kimura
    Department of Urology, Institute of DNA Medicine, Jikei University, School of Medicine, Tokyo, Japan
    Cancer 92:2555-61. 2001
    ..growth factor receptor 3 (FGFR3) are associated with autosomal dominant human skeletal disorders such as thanatophoric dysplasia (TD)...
  9. ncbi Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
    M C Naski
    Department of Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Nat Genet 13:233-7. 1996
    ..as in the autosomal dominant human skeletal diseases hypochondroplasia (HCH), achondroplasia (ACH) and thanatophoric dysplasia (TD)...
  10. ncbi Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells
    Nakisa Nowroozi
    Department of Psychiatry and Human Behavior, 2121 Gillespie, University of California at Irvine, Irvine, CA 92697, USA
    Hum Mol Genet 14:1529-38. 2005
    ..common genetic form of short-limbed dwarfism, achondroplasia (ACH), as well as neonatal lethal forms, thanatophoric dysplasia (TD) I and II...
  11. ncbi Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
    P L Tavormina
    Department of Biological Chemistry and Human Genome Research Center, University of California, Irvine 92717, USA
    Nat Genet 9:321-8. 1995
    b>Thanatophoric dysplasia (TD), the most common neonatal lethal skeletal dysplasia, affects one out of 20,000 live births. Affected individuals display features similar to those seen in homozygous achondroplasia...
  12. ncbi Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia
    Valentine J Hyland
    Department of Surgery, University of Queensland, Royal Brisbane Hospital, Herston Hospitals Campus, Brisbane, Australia
    Am J Med Genet A 120:157-68. 2003
    ..a lethal short-limbed dwarfism with pulmonary hypoplasia, strongly suggestive of an undiagnosed thanatophoric dysplasia. These findings confirm the proposita to be a somatic and germline mosaic for this particular missense ..
  13. ncbi Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, ROC
    Prenat Diagn 21:89-95. 2001
    b>Thanatophoric dysplasia (TD) is one of the most common neonatal lethal skeletal dysplasias. Prenatal sonographic and molecular genetic diagnoses of three cases of TD type I (TD1) and one case of TD type II (TD2) are presented here...
  14. ncbi Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis
    Seiji Tsutsumi
    Department of Obstetrics and Gynecology, Yamagata University School of Medicine, Yamagata, Japan
    Fetal Diagn Ther 24:420-4. 2008
    We report the first case of thanatophoric dysplasia (TD) successfully diagnosed in utero by a combination of 2-D ultrasound, computed tomography (CT) 3-D imaging and genetic analysis at 26 weeks' gestation.
  15. ncbi The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum
    Patricia M J Lievens
    Department of Neurological Sciences, University of Verona Medical School, 37134 Verona, Italy
    J Biol Chem 278:17344-9. 2003
    ..constitutive tyrosine kinase activity of the receptor and is associated to the lethal skeletal disorder, thanatophoric dysplasia type II (TDII). The underlying mechanisms of how the activated FGFR3 causes TDII remains to be elucidated...
  16. ncbi Telomere length, telomerase activity, and expression of human telomerase reverse transcriptase mRNA in growth plate of epiphyseal articular cartilage in femoral head during normal human development and in thanatophoric dysplasia
    Mitsuhiro Morita
    Department of Orthopaedic Surgery, National Defense Medical College, Tokorozawa, Japan
    Hum Pathol 35:403-11. 2004
    ..from 57 reference autopsy cases (aged from 16 weeks of gestation to 91 years) and from 2 patients with thanatophoric dysplasia. In the reference cases, telomere length was significantly longer in growth plates obtained from the 10 ..
  17. ncbi Prenatal diagnosis and molecular analysis of type 1 thanatophoric dysplasia
    Dongzhi Li
    Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong, China
    Int J Gynaecol Obstet 91:268-70. 2005
  18. ncbi The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor
    Jacky Bonaventure
    Institut Curie, Universite Paris Sud, Orsay, and Department of Medical Genetics INSERM U393, Hopital Necker, Paris, France
    FEBS J 274:3078-93. 2007
    ..mutations have been ascribed to skeletal dysplasias of variable severity including the lethal neonatal thanatophoric dysplasia types I (TDI) and II (TDII)...
  19. ncbi The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis
    Robert F Hevner
    Department of Pathology Neuropathology, University of Washington School of Medicine, Harborview Medical Center, 325 Ninth Ave, Box 359791, Seattle, WA 98104, USA
    Acta Neuropathol 110:208-21. 2005
    b>Thanatophoric dysplasia (TD) is a relatively common, fatal form of chondrodysplastic dwarfism in which the cerebral cortex displays a unique and complex malformation...
  20. ncbi Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism
    W C Su
    Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06520 8023, USA
    Nature 386:288-92. 1997
    ..the most common genetic forms of dwarfism in humans and includes achondroplasia, hypochondroplasia and thanatophoric dysplasia types I and II (TDI and TDII), which are caused by different mutations in a fibroblast growth-factor ..
  21. ncbi Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
    P L Tavormina
    Department of Biological Chemistry, University of California, Irvine 92717, USA
    Hum Mol Genet 4:2175-7. 1995
  22. ncbi Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia
    N Kölble
    Unit of Perinatal Physiology, Department of Obstetrics, University Hospital, Zurich, Switzerland
    Ultrasound Obstet Gynecol 19:92-8. 2002
    ..Our report describes two cases of thanatophoric dysplasia with different fetal sonographic findings...
  23. ncbi Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria
    Kazuki Okajima
    Clinical and Molecular Genetics Unit, Institute of Child Health, London, United Kingdom
    Cleft Palate Craniofac J 39:246-8. 2002
    A long-surviving thanatophoric dysplasia type I patient to age of 6 years is presented.
  24. ncbi Third-trimester 3D ultrasound evaluation of thanatophoric dysplasia type I
    Chih Ping Chen
    Taiwan J Obstet Gynecol 46:281-3. 2007
  25. ncbi Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype
    G Camera
    Department of Pediatrics and Regional Center of Hand Surgery, San Paolo Hospital, Savona, Italy
    Am J Med Genet 104:277-81. 2001
    ..clinical and radiological findings of achondroplasia, who had the most common FGFR3 mutation occurring in thanatophoric dysplasia type I and hypochondroplasia, respectively...
  26. ncbi [Thanatophoric dysplasia: three patients hospitalized in PAIP in 1994-2000]
    Anna Kruczek
    Zakład Genetyki Medycznej Katedry Pediatrii Wydziału Lekarskiego Uniwersytetu Jagiellońskiego, 30 663 Krakow, ul Wielicka 265
    Przegl Lek 59:137-9. 2002
    ..Inheritance is autosomal dominant. The most common mutation C742T leads to substitution of arginine by cysteine in 248 position of polypeptide (R248C)...
  27. ncbi Ultrasound assessment of biometric trends in a case of thanatophoric dysplasia
    S Fieni
    Department of Gynecology, Obstetrics and Neonatology, University of Parma, Italy
    Gynecol Obstet Invest 54:122-4. 2002
    We present a case of thanatophoric dysplasia diagnosed at the 21st week of gestation. Serial ultrasound was performed throughout pregnancy. The scans showed a distinctive pattern of development of the fetal long bones...
  28. ncbi Some chondrodysplasias with short limbs: molecular perspectives
    M Michael Cohen
    Department of Oral and Maxillofacial Sciences, Dalhousie University, Halifax, Nova Scotia, Canada
    Am J Med Genet 112:304-13. 2002
    ..The latter group includes achondroplasia, hypochondroplasia, thanatophoric dysplasia (types 1 and 2), San Diego platyspondylic dysplasia, and SADDAN.
  29. ncbi FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation
    E Monsonego-Ornan
    Department of Molecular Cell Biology, Weizmann Institute of Science, Rehovot 76100, Israel
    FEBS Lett 528:83-9. 2002
    ..with that of its naturally occurring overactive mutants, G380R as in achondroplasia, or K650E involved in thanatophoric dysplasia. Fibroblast growth factor receptors ubiquitylation was found to be directly proportional to their ..
  30. ncbi Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization
    Rivka Adar
    ProChon Biotech, Ltd, Kiryat Weizmann, Science Park, Rehovot, Israel
    J Bone Miner Res 17:860-8. 2002
    ..These result in chronic FGFR3 hyperactivation and inhibition of bone growth. One such disorder, thanatophoric dysplasia, the most common form of sporadic, lethal dwarfism, is associated frequently with cysteine substitutions (..
  31. ncbi Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type
    Luitgard Neumann
    Institute of Human Genetics and Children s Hospital, Charite Campus, Humboldt University, Augustenburger Platz 1, 13353, Berlin, Germany
    Pediatr Radiol 33:786-90. 2003
    ..in the FGFR3 coding region, suggesting that this type of platyspondylic chondrodysplasia is not a thanatophoric dysplasia variant...
  32. ncbi A central nervous system specific mouse model for thanatophoric dysplasia type II
    Ti Lin
    Laboratory of Genetics, National Institute on Aging, Baltimore Maryland, 21224 6814, USA
    Hum Mol Genet 12:2863-71. 2003
    ..Overall, these data indicate that the tissue-specific mouse model is an excellent system for studying the role of Fgfr3 in the developing CNS...
  33. ncbi Thanatophoric dysplasia: a case report and review of literature
    P S Indu
    Department of Pathology, Medical College, Kottayam
    Indian J Pathol Microbiol 50:589-92. 2007
    ..intervertebral spaces, bell-shaped chest, short ribs with flared ends which are features described in Thanatophoric dysplasia. This was confirmed by histopathological findings in the epiphyseal growth plate...
  34. ncbi Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2
    Karim D Kalache
    Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Medical Faculty of the Humboldt University, Berlin, Germany
    Prenat Diagn 22:404-7. 2002
    A fetus with thanatophoric dysplasia type 2 (TD2) associated with cloverleaf skull and abnormal development of the corpus callosum is reported...
  35. ncbi G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia
    N Katsumata
    Department of Endocrinology and Metabolism, National Children s Medical Research Center, Tokyo, Japan
    Endocr J 45:S171-4. 1998
    b>Thanatophoric dysplasia (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, relative macrocephaly, platyspondyly and reduced thoracic cavity...
  36. ncbi Thanatophoric dysplasia type I with syndactyly
    S G Brodie
    Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, UCLA School of Medicine, Los Angeles, California, USA
    Am J Med Genet 80:260-2. 1998
    We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes...
  37. ncbi Thanatophoric dysplasia type I
    T K Chang
    Department of Pediatrics, Shalu Tung's General Hospital, No. 8, Cheng Kung West St, Shalu, Taichung 43304, Taiwan
    Acta Paediatr Taiwan 42:39-41. 2001
    b>Thanatophoric dysplasia is a sporadic, nearly always lethal congenital skeletal dysplasia. It is characterized by shortening of the limbs, a severely small thorax, macrocephaly, and platyspondyly...
  38. ncbi Thanatophoric dysplasia: roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient
    Duangrurdee Wattanasirichaigoon
    Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
    J Med Assoc Thai 89:1287-92. 2006
    b>Thanatophoric dysplasia is the most common neonatal lethal skeletal dysplasia with an estimated incidence of 1 in 20,000 live births...
  39. ncbi Thanatophoric dysplasia type 2 with encephalocele during the second trimester
    Dongzhi Li
    Am J Med Genet A 140:1476-7. 2006
  40. ncbi [Role of FGFs in osteogenesis and chondrogenesis]
    Norihiko Ohbayashi
    Okazaki Institute for Integrative Bioscience, National Institutes of Natural Sciences
    Nihon Rinsho 63:514-8. 2005
  41. ncbi Congenital cervical instability in a patient with camptomelic dysplasia
    Gregory P Lekovic
    Division of Neurological Surgery, Barrow Neurological Institute, St Joseph s Hospital and Medical Center, Phoenix, AZ 85003, USA
    Childs Nerv Syst 22:1212-4. 2006
    ..Most patients die of complications in infancy, although long-term survivors have been reported...
  42. ncbi A case of thanatophoric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis
    H S Wong
    Department of Obstetrics and Gynaecology, Wellington School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand
    Fetal Diagn Ther 24:71-3. 2008
    To present the early 2D and 3D ultrasound findings and the molecular confirmation in a case of thanatophoric dysplasia.
  43. ncbi Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester
    Pierangela De Biasio
    Prenat Diagn 25:426-8. 2005
  44. ncbi Transient dimerization and interaction with ERGIC-53 occur in the fibroblast growth factor receptor 3 early secretory pathway
    Patricia M J Lievens
    Division of Biochemistry, Department of Morphological and Biomedical Sciences, University of Verona Medical School, Verona, Italy
    Int J Biochem Cell Biol 40:2649-59. 2008
    ..We have previously shown that the increased kinase activity associated with FGFR3 bearing the thanatophoric dysplasia type II (TDII) mutation hampers its maturation, enabling the receptor to signal from the endoplasmic ..
  45. ncbi The ethical health lawyer. Incompetent decisionmakers and withdrawal of life-sustaining treatment: a case study
    Lance Lightfoot
    Legal Department, Texas Children s Hospital, Houston, Texas, USA
    J Law Med Ethics 33:851-6. 2005
  46. ncbi Effect of pathogenic cysteine mutations on FGFR3 transmembrane domain dimerization in detergents and lipid bilayers
    Min You
    Department of Materials Science and Engineering, Johns Hopkins University, Baltimore, Maryland 21218, USA
    Biochemistry 46:11039-46. 2007
    ..Here we study three pathogenic Cys mutations, associated with either thanatophoric dysplasia or achondroplasia, in the TM domain of fibroblast growth factor receptors 3 (FGFR3)...
  47. ncbi Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1
    Daisuke Harada
    Department of Pediatrics, Okayama University, Graduate School of Medicine and Dentistry, 2 5 1 Shikata cho, Okayama 700 8558, Japan
    Bone 41:273-81. 2007
    ..severity, including mild phenotypic effects in hypochondroplasia (HCH), severe phenotypic effects in thanatophoric dysplasia types I (TDI) and II (TDII), and severe but survivable phenotypic effects in severe achondroplasia with ..
  48. ncbi Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders
    Bas W G van Rhijn
    Department of Pathology, Josephine Nefkens Institute, Erasmus University, 3000 DR Rotterdam, The Netherlands
    Eur J Hum Genet 10:819-24. 2002
    ..e. hypochondroplasia, achondroplasia, SADDAN and thanatophoric dysplasia--a neonatal lethal dwarfism syndrome...
  49. ncbi The cytoplasmic tyrosine kinase Pyk2 as a novel effector of fibroblast growth factor receptor 3 activation
    April N Meyer
    Department of Chemistry and Biochemistry, Center for Molecular Genetics, University of California San Diego, La Jolla, CA 92093 0367, USA
    J Biol Chem 279:28450-7. 2004
    ..are responsible for human skeletal dysplasias including achondroplasia and the neonatal lethal syndromes thanatophoric dysplasia types I and II...
  50. ncbi PTHrP rescues ATDC5 cells from apoptosis induced by FGF receptor 3 mutation
    Yoshitaka Yamanaka
    Department of Pediatrics, Okayama University Graduate School of Medicine and Dentistry, Okayama, Japan
    J Bone Miner Res 18:1395-403. 2003
    ..ACH chondrocytes exhibited marked apoptotic with downregulation of PTHrP expression. Rescue of these cells by PTHrP replacement implies a potential therapy for this disorder...
  51. ncbi Three- and four-dimensional ultrasound: new methods for evaluating fetal thoracic anomalies
    R Achiron
    Department of Obstetrics and Gynecology, Ultrasound Unit, The Chaim Sheba Medical Center, Tel Hashomer, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Israel
    Ultrasound Obstet Gynecol 32:36-43. 2008
    ..To study three- (3D) and four-dimensional (4D) ultrasound applications for the evaluation of fetal thoracic anomalies...
  52. ncbi 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
    G A Bellus
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Am J Med Genet 85:53-65. 1999
    ..results in severe disturbances in endochondral bone growth that approach and overlap those observed in thanatophoric dysplasia, type I. However, this mutation is most often compatible with survival into adulthood...
  53. ncbi FGFR3 intracellular mutations induce tyrosine phosphorylation in the Golgi and defective glycosylation
    Linda Gibbs
    INSERM U781, Hopital des Enfants Malades, 149 rue de Sévres 75015 Paris, France
    Biochim Biophys Acta 1773:502-12. 2007
    ..have been implicated in a series of skeletal dysplasias including hypochondroplasia, achondroplasia and thanatophoric dysplasia. The severity of these diseases ranges from mild dwarfism to severe dwarfism and to perinatal lethality, ..
  54. ncbi Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
    G A Meyers
    Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland 21287 3914, USA
    Nat Genet 11:462-4. 1995
    ..In contrast, only FGFR3 mutations have been reported in dwarfing conditions--achondroplasia, thanatophoric dysplasia, and hypochondroplasia...
  55. ncbi Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias
    D Krakow
    Department of Obstetrics and Gynecology, Ahmanson Department of Pediatrics, Burns and Allen Cedars Sinai Research Institute, Los Angeles, California, USA
    Ultrasound Obstet Gynecol 21:467-72. 2003
    ..We aimed to determine whether three-dimensional (3D) imaging conferred any advantages over 2D imaging in these cases...
  56. ncbi Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia
    Stéphanie Pannier
    INSERM U781 Université Paris Descartes Hôpital Necker Enfants Malades 149 rue de Sèvres 75015, Paris, France
    Biochim Biophys Acta 1792:140-7. 2009
    ..activating mutations in FGFR3 cause skeletal dysplasias, including hypochondroplasia, achondroplasia and thanatophoric dysplasia. The introduction of the Y367C mutation corresponding to the human Y373C thanatophoric dysplasia type I (..
  57. ncbi A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia
    A Winterpacht
    Children s Hospital, University of Mainz, D 55101 Mainz, Germany
    Physiol Genomics 2:9-12. 2000
    ..with autosomal dominant human skeletal disorders such as hypochondroplasia, achondroplasia, and thanatophoric dysplasia. Hypochondroplasia (HCH), the mildest form of this group of short-limbed dwarfism disorders, results in ..
  58. ncbi Mouse models orthologous to FGFR3-related skeletal dysplasias
    Steven G Brodie
    Genetics of Development and Disease Branch, NIDDK, NIH, 10 9N105, 10 Center Drive, Bethesda, MD 20892, USA
    Pediatr Pathol Mol Med 22:87-103. 2003
    ..of mutations that correspond to the missense mutations identified in individuals with achondroplasia and thanatophoric dysplasia. These mouse models mimic the human condition and can be used for further studies to identify and ..
  59. ncbi Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings
    A Michelle Fink
    Department of Medical Imaging, The Royal Children s Hospital, Flemington Road, Melbourne, Victoria, 3052, Australia
    Pediatr Radiol 40:S134-7. 2010
    We present a case in which the unusual cerebral malformations of thanatophoric dysplasia (TD) were identified on a 21-week fetal US and confirmed by antenatal MRI, postmortem imaging and autopsy...
  60. ncbi Transformation and Stat activation by derivatives of FGFR1, FGFR3, and FGFR4
    K C Hart
    Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla 92093 0367, USA
    Oncogene 19:3309-20. 2000
    ..in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas...
  61. ncbi Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis
    Ying na Liu
    Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children s Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, China
    J Matern Fetal Neonatal Med 24:186-8. 2011
    Type 1 thanatophoric dysplasia (TD) is typically a lethal dwarfism. It is not always possible to distinguish fetuses with TD from other skeletal dysplasia in utero by ultrasonography...
  62. ncbi Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006)
    Yasemin Alanay
    Clinical Genetics Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
    Am J Med Genet A 143:1159-68. 2007
    ..4%), thanatophoric dysplasia (23.9%) and osteogenesis imperfecta (OI) (18.1%)...
  63. ncbi A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos
    T Iwata
    Medical Genetics Branch, National Human Genome Research Institute, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 9:1603-13. 2000
    ..with the K644E mutation, which accurately reflects the embryonic onset of a neonatal lethal dwarfism, thanatophoric dysplasia type II (TDII)...
  64. ncbi Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes
    M Michael Cohen
    Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
    J Craniofac Surg 20:646-51. 2009
    ..of craniosynostosis; well-known syndromes (Muenke syndrome and Pfeiffer syndrome); and unusual syndromes (thanatophoric dysplasia, Beare-Stevenson cutis gyrata syndrome, Crouzonodermoskeletal syndrome, Carpenter syndrome, Elejalde ..
  65. pmc Fgf receptor 3 activation promotes selective growth and expansion of occipitotemporal cortex
    Rachel E Thomson
    Division of Cancer Sciences and Molecular Pathology, University of Glasgow, Beatson Laboratories for Cancer Research, Garscube Estate, Switchback Road, Glasgow, G61 1BD, UK
    Neural Dev 4:4. 2009
    ..Recently, the function of Fgf15 in antagonizing Fgf8 in the rostral signaling center was also reported. However, regulation of caudal area formation by Fgf signaling remains unknown...
  66. ncbi Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology
    Gabriele Tonni
    Guastalla Civil Hospital, Department of Gynecology and Obstetrics, Guastalla, Italy
    Fetal Pediatr Pathol 29:314-22. 2010
    A case of thanatophoric dysplasia (TD) type I associated with severely increased nuchal translucency at first trimester screening for Down syndrome is reported...
  67. pmc Generation of Fgfr3 conditional knockout mice
    Nan Su
    State Key Laboratory of Trauma, Burns and Combined Injury, Center of Bone Metabolism and Repair, Trauma Center, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing 400042, China
    Int J Biol Sci 6:327-32. 2010
    ..different types of chondrodysplasia syndromes including achondroplasia (ACH), hypochondroplasia (HCH) and thanatophoric dysplasia (TD)...
  68. ncbi [Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases]
    Ahlem Lahmar-Boufaroua
    Service d anatomie et cytologie pathologique, Hôpital Farhat Hached, Sousse
    Tunis Med 87:127-32. 2009
    ..The lethal osteochondrodysplasias are rare, their prevalence is estimated at 1 per 10 000 births. Mostly have genetic determinism...
  69. ncbi Achondrogenesis
    Raj P Kapur
    Department of Laboratories, Children s Hospital and Regional Medical Center, Seattle, WA 98105, USA
    Pediatr Dev Pathol 10:253-5. 2007
    ..The changes reported differ from matrix alterations observed in achondrogenesis types IB or II and provide insight into the phenotypic and genotypic differences within this group of skeletal dysplasias...
  70. ncbi The scapula as a window to the diagnosis of skeletal dysplasias
    G R Mortier
    Department of Medical Genetics, University Hospital of Gent, De Pintelaan 185, B 9000 Gent, Belgium
    Pediatr Radiol 27:447-51. 1997
    ....
  71. ncbi Familial acanthosis nigricans due to K650T FGFR3 mutation
    David R Berk
    Department of Internal Medicine, Washington University School of Medicine, 660 S Euclid, Campus Box 8123, St Louis, MO 63110, USA
    Arch Dermatol 143:1153-6. 2007
    ..of the fibroblast growth factor receptor 3 gene (FGFR3), including Crouzon syndrome with acanthosis nigricans, thanatophoric dysplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN syndrome).
  72. ncbi Skeletal dysplasias: 38 prenatal cases
    I Witters
    Center for Human Genetics, University of Leuven, Belgium
    Genet Couns 19:267-75. 2008
    ..To assess the prenatal diagnosis of skeletal dysplasias in a single center over a ten-years period...
  73. ncbi Postnatally diagnosed agenesis of corpus callosum in fetuses
    Tanya Todorova Kitova
    1Department of Anatomy, Histology and Embryology, Medical University of Plovdiv, Plovdiv, Bulgaria
    Fetal Pediatr Pathol 33:239-43. 2014
    ..To examine and characterize the agenesis of the corpus calosum (ACC) in an epidemiological study of fetal autopsies, as well as, to analyze the associated anomalies and to emphasize the importance of the clinical examination of ACC...
  74. ncbi FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1
    Yu Yang
    Department of Obstetrics and Gynecology, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children s Medical Center, Guangzhou Medical College, Guangzhou, China
    Fetal Diagn Ther 26:90-2. 2009
    b>Thanatophoric dysplasia type 1 (TD 1) is typically a lethal dwarfism. We report our findings of fibroblast growth factor receptor 3 (FGFR3) mutations in Chinese cases of TD 1.
  75. pmc Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia
    Masaki Matsushita
    Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan
    PLoS ONE 8:e81569. 2013
    ..cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH...
  76. pmc Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis
    Deborah Krakow
    Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA
    Am J Med Genet A 146:1917-24. 2008
    ..The three most common prenatal-onset skeletal dysplasias were osteogenesis imperfecta type 2, thanatophoric dysplasia and achondrogenesis 2, accounting for almost 40% of the cases...
  77. ncbi Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)
    F Rousseau
    Unité de Recherches sur les Handicaps Génétiques de I Enfant INSERM U 393, CNRS ER 88, Paris, France
    Hum Mol Genet 5:509-12. 1996
    ..Our results suggest that TD1 is a genetically homogeneous condition and give additional support to the view that newly created cysteine residues in the extracellular domain of the protein play a key role in the severity of the disease...
  78. ncbi Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Medicine, Mackay Medical College, New Taipei City, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Taiwan J Obstet Gynecol 52:420-5. 2013
    To present the ultrasound and molecular genetic diagnosis of thanatophoric dysplasia type II (TD2).
  79. ncbi Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue
    Diclehan Orhan
    Division of Pediatric Pathology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 50:395-9. 2008
    ..In this report, we present a 24-week-old female fetus with a possible prenatal diagnosis of thanatophoric dysplasia in whom postmortem examination revealed lethal type Larsen-like syndrome associated with bifid tongue, ..
  80. pmc New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling
    Laurent Schibler
    Unité U781, Institut National de la Sante et de la Recherche Medicale, Université Paris Descartes Hôpital Necker, Paris, France
    PLoS ONE 4:e7633. 2009
    ..gene lead to craniosynostosis and multiple types of skeletal dysplasia with varying degrees of severity: thanatophoric dysplasia (TD), achondroplasia and hypochondroplasia...
  81. pmc Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype
    G A Bellus
    Department of Dermatology, University of Colorado School of Medicine, Denver, CO 80262, USA
    Am J Hum Genet 67:1411-21. 2000
    ..activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and ..
  82. ncbi A case of thanatophoric dysplasia type I associated with mandibular clefting
    O Tuncer
    Genet Couns 15:95-7. 2004
  83. ncbi A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors
    C Li
    Genetics of Development and Diseases Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases National Institutes of Health, 10 Center Drive, Bethesda, MD, USA
    Hum Mol Genet 8:35-44. 1999
    ..receptor 3 (FGFR3) result in several skeletal dysplasias, including hypochondroplasia, achondroplasia and thanatophoric dysplasia. To study the function of FGFR3 in bone growth and to create animal models for the FGFR3-related ..
  84. ncbi [Lethal osteogenesis imperfecta. Prenatal diagnosis]
    M Dhouib
    Service de Gynecologie Obstetrique, Hôpital régional de Maharès, Tunisie
    Presse Med 33:658-60. 2004
    ..Osteogenesis imparfecta (OI) comprises a group of disorders principally affecting type I collagen, which result in increased bone fragility. Lethal forms are rare and are characterised by micromelia with malformation of the limbs...
  85. ncbi Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia
    J J Varkey
    Department of Paediatrics, Wexham Park Hospital, Slough, Berkshire, United Kingdom
    Ultrasound Obstet Gynecol 24:575-7. 2004
    ..Intrauterine death occurred in the third trimester and the precise diagnosis was made postmortem. This is the first case reported in the UK...
  86. ncbi Molecular basis for the treatment of achondroplasia
    Yoshitaka Yamanaka
    Department of Pediatrics, Okayama University Graduate School of Medicine and Dentistry, Okayama, Japan
    Horm Res 60:60-4. 2003
    ..we analyzed apoptosis using a chondrogenic cell line, ATDC5, expressing the FGFR3 mutants causing ACH and thanatophoric dysplasia, which is a more severe neonatal lethal form comprising type I and type II...
  87. ncbi FGFR3 as a therapeutic target of the small molecule inhibitor PKC412 in hematopoietic malignancies
    Jing Chen
    Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA
    Oncogene 24:8259-67. 2005
    ..growth factor receptor 3 (FGFR3) that sometimes may contain the activation mutations such as K650E thanatophoric dysplasia type II (TDII)...
  88. pmc Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis
    Renate Marquis-Nicholson
    Diagnostic Genetics, LabPlus, Auckland City Hospital, Auckland, New Zealand
    Sultan Qaboos Univ Med J 13:80-7. 2013
    b>Thanatophoric dysplasia (TD) is the most common form of lethal skeletal dysplasia. It is primarily an autosomal dominant disorder and is characterised by macrocephaly, a narrow thorax, short ribs, brachydactyly, and hypotonia...
  89. ncbi Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations
    S G Brodie
    Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Burns and Allen Research Institute, Los Angeles, California 90048, USA
    Am J Med Genet 84:476-80. 1999
    ..The most common form of PLSD is thanatophoric dysplasia (TD), which has been divided into two types (TD1 and TD2)...
  90. ncbi Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis
    Ugo E Pazzaglia
    Orthopaedic Clinic, Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy
    Skeletal Radiol 43:1205-15. 2014
    ..Documentation through X-ray morphometry and histology of the steady phenotype expressed by FGFR3 gene mutation and interpolation of mechanical factors on spine and long bones dysmorphism...
  91. ncbi Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings
    Chih Ping Chen
    Prenat Diagn 22:736-7. 2002
  92. ncbi High frequency of FGFR3 mutations in adenoid seborrheic keratoses
    Christian Hafner
    Department of Dermatology, University of Regensburg, Regensburg, Germany
    J Invest Dermatol 126:2404-7. 2006
    FGFR3 germline mutations cause autosomal dominant skeletal disorders including achondroplasia, thanatophoric dysplasia, severe achondroplasia with developmental delay and acanthosis nigricans, and Crouzon syndrome...
  93. ncbi Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results
    H Sawai
    Department of Obstetrics and Gynaecology, Hyogo College of Medicine, Japan
    Prenat Diagn 19:21-4. 1999
    b>Thanatophoric dysplasia (TD) is the most frequent form of neonatal lethal skeletal dysplasia. Recently...
  94. ncbi Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports
    Yu Yang
    Department of Obstetrics and Gynecology, Guangzhou Women and Childrens Medical Center, Guangzhou Medical College, Guangzhou, China
    Fetal Pediatr Pathol 31:128-33. 2012
    b>Thanatophoric dysplasia (TD) is a relatively common lethal skeletal dysplasia. These malformations result from the mutations in fibroblast growth factor receptor 3 (FGFR3) gene, which is located on the short arm of chromosome 4...
  95. ncbi Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I
    Kyoko Itoh
    Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine, Graduate School of Medical Sciences, Kyoto, Japan
    Neuropathology 33:663-6. 2013
    b>Thanatophoric dysplasia is a lethal form of chondrodysplastic dwarfism in which the cerebral cortex displays a unique and complex malformation. We report a female case of thanatophoric dysplasia type I (TD1) with FGFR3 mutation...
  96. ncbi Thanatophoric dysplasia: autopsy findings over a 25-year period
    Christina Vogt
    Department of Pathology and Medical Genetics, St Olavs Hospital, Trondheim University Hospital, Trondheim, Norway
    Pediatr Dev Pathol 16:160-7. 2013
    The aim of our study was to retrospectively assess morphological findings in thanatophoric dysplasia, particularly, in how many cases were cerebral manifestations with temporal lobe dysplasia identified...
  97. ncbi Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy
    Michael B Bober
    Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 158:2336-41. 2012
    ..complex have been described with abnormal pulmonary function and infants with thanatophoric dysplasia have similar abnormal pulmonary anatomy...
  98. ncbi Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation
    Cristina M Philpott
    Department of Neuroradiology, The Hospital for Sick Children, Toronto, ON, Canada
    Pediatr Radiol 43:1190-5. 2013
    b>Thanatophoric dysplasia (TD) and hypochondroplasia are both caused by FGFR3 (fibroblast growth factor receptor 3) gene mutations...
  99. ncbi The importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndrome
    Rafael Lima Pedro
    Department of Pediatric Dentistry and Orthodontics, School of Dentistry, Federal University of Rio de Janeiro, Brazil
    Gen Dent 59:e206-9. 2011
    ..Her condition was initially diagnosed as thanatophoric dysplasia by her pediatrician...
  100. pmc Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, UK
    Am J Hum Genet 90:175-200. 2012
    ..A small group of disorders, including Apert syndrome (caused by FGFR2 mutations), achondroplasia, and thanatophoric dysplasia (FGFR3), and Costello syndrome (HRAS), which we collectively term "paternal age effect" (PAE) disorders, ..
  101. pmc Prenatal third trimester sonographic behavior of a thanatophoric dwarfs
    Adekunle Y Abdulkadir
    Department of Radiology
    J Prenat Med 2:42-6. 2008
    b>Thanatophoric dysplasia (TD), the most common of the congenital lethal skeletal dysplasias occurs sporadically in 1/64,000-100,000 live births...

Research Grants6

  1. DYSFUNCTIONAL FGFR SIGNALING IN CRANIOSYNOSTOSIS
    Robert Friesel; Fiscal Year: 2002
    ..In addition, several dwarfing syndromes, achondroplasia, thanatophoric dysplasia types I and II, and hypochondroplasia were shown to be associated with mutations in FGFR-3...
  2. FGF RECEPTOR SIGNALING IN BONE DEVELOPMENT
    Joseph Schlessinger; Fiscal Year: 2009
    ..for a variety of bone and skeletal disorders including Crouzon, Apert, Jackson- Weiss, achondroplasia and thanatophoric dysplasia syndromes...
  3. SACRAL CREST CELLS AND ENTERIC NEURODEVELOPMENT
    Raj Kapur; Fiscal Year: 2005
    ..The results of this study will further our understanding of normal enteric neurodevelopment and congenital disorders of intestinal motility. ..
  4. Regulation of Laminar Fate in Cerebral Cortex
    Robert Hevner; Fiscal Year: 2006
    ..If molecular fates are aEered in heterochronic or Rein mutant cortex, this would suggest that certain aspects of laminar fate can be regulated post-mitotically. ..
  5. Prenatal Ultrasound And Birth Defects
    DOROTHY WALLER; Fiscal Year: 2008
    ..Estimates of sensitivity and specificity will be calculated for each of 38 different categories of malformations. [unreadable] [unreadable] [unreadable]..
  6. Signaling and targeting of FGFR1 fusions in 8p11 myeloproliferative syndrome
    Jing Chen; Fiscal Year: 2010
    ..In summary, this proposal will provide detailed information about signaling and transforming properties of FGFR1 fusions, and explore therapeutic strategies to treat FGFR1-associated malignancies. ..