Literature DB >> 2661822

Cranioectodermal dysplasia (Sensenbrenner's syndrome).

I D Young1.   

Abstract

Entities:  

Mesh：

Year:  1989        PMID： 2661822      PMCID： PMC1015626          DOI： 10.1136/jmg.26.6.393

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  9 in total

1.  DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.

Authors:  V A MCKUSICK; J A EGELAND; R ELDRIDGE; D E KRUSEN
Journal:  Bull Johns Hopkins Hosp       Date:  1964-10

2.  DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.

Authors:  V A MCKUSICK; R ELDRIDGE; J A HOSTETLER; U RUANGWIT; J A EGELAND
Journal:  Bull Johns Hopkins Hosp       Date:  1965-05

3.  New syndrome of skeletal, dental and hair anomalies.

Authors:  J A Sensenbrenner; J P Dorst; R P Owens
Journal:  Birth Defects Orig Artic Ser       Date:  1975

4.  Cranioectodermal dysplasia.

Authors:  S Gellis; M Feingold; D Dubner
Journal:  Am J Dis Child       Date:  1979-12

5.  Tricho-dento-osseous syndrome: heterogeneity or clinical variability.

Authors:  S D Shapiro; F L Quattromani; R J Jorgenson; R S Young
Journal:  Am J Med Genet       Date:  1983-10

6.  A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia.

Authors:  L S Levin; J C Perrin; L Ose; J P Dorst; J D Miller; V A McKusick
Journal:  J Pediatr       Date:  1977-01       Impact factor: 4.406

7.  Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s).

Authors:  A G Hunter; N L Rudd
Journal:  Teratology       Date:  1976-10

8.  Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature.

Authors:  R E Tipton; R J Gorlin
Journal:  Am J Med Genet       Date:  1984-10

Review 9.  Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating.

Authors:  M M Cohen
Journal:  Birth Defects Orig Artic Ser       Date:  1979
  9 in total
  11 in total

1.  Cranioectodermal dysplasia in sibs.

Authors:  G D Lang; I D Young
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

2.  Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

Authors:  Cecilie Bredrup; Sophie Saunier; Machteld M Oud; Torunn Fiskerstrand; Alexander Hoischen; Damien Brackman; Sabine M Leh; Marit Midtbø; Emilie Filhol; Christine Bole-Feysot; Patrick Nitschké; Christian Gilissen; Olav H Haugen; Jan-Stephan F Sanders; Irene Stolte-Dijkstra; Dorus A Mans; Eric J Steenbergen; Ben C J Hamel; Marie Matignon; Rolph Pfundt; Cécile Jeanpierre; Helge Boman; Eyvind Rødahl; Joris A Veltman; Per M Knappskog; Nine V A M Knoers; Ronald Roepman; Heleen H Arts
Journal:  Am J Hum Genet       Date:  2011-10-20       Impact factor: 11.025

3.  Ellis-van Creveld Syndrome with Sagittal Craniosynostosis.

Authors:  Andrew S Fischer; William M Weathers; Erik M Wolfswinkel; Robert J Bollo; Larry H Hollier; Edward P Buchanan
Journal:  Craniomaxillofac Trauma Reconstr       Date:  2014-10-27

4.  Probing the role of IFT particle complex A and B in flagellar entry and exit of IFT-dynein in Chlamydomonas.

Authors:  Shana M Williamson; David A Silva; Elizabeth Richey; Hongmin Qin
Journal:  Protoplasma       Date:  2011-08-19       Impact factor: 3.356

5.  A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia.

Authors:  T Eke; G Woodruff; I D Young
Journal:  Br J Ophthalmol       Date:  1996-05       Impact factor: 4.638

Review 6.  Role of Primary Cilia in Odontogenesis.

Authors:  M Hampl; P Cela; H L Szabo-Rogers; M Kunova Bosakova; H Dosedelova; P Krejci; M Buchtova
Journal:  J Dent Res       Date:  2017-06-12       Impact factor: 6.116

Review 7.  Craniofacial ciliopathies: A new classification for craniofacial disorders.

Authors:  Samantha A Brugmann; Dwight R Cordero; Jill A Helms
Journal:  Am J Med Genet A       Date:  2010-12       Impact factor: 2.802

8.  Novel large deletion involving EVC and EVC2 in Ellis-van Creveld syndrome.

Authors:  Hiroki Sato; Kenichi Suga; Masashi Suzue; Yukako Honma; Yasunobu Hayabuchi; Shunsuke Miyai; Hiroki Kurahashi; Ryuji Nakagawa
Journal:  Hum Genome Var       Date:  2022-05-17

9.  Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia.

Authors:  Katsuyuki Obikane; Taiji Nakashima; Yoshihiko Watarai; Ken Morita; Kazutoshi Cho; Hidefumi Tonoki; Michio Nagata; Satoshi Sasaki
Journal:  Pediatr Nephrol       Date:  2006-02-21       Impact factor: 3.714

10.  A mutation in IFT43 causes non-syndromic recessive retinal degeneration.

Authors:  Pooja Biswas; Jacque L Duncan; Muhammad Ali; Hiroko Matsui; Muhammad Asif Naeem; Pongali B Raghavendra; Kelly A Frazer; Heleen H Arts; Sheikh Riazuddin; Javed Akram; J Fielding Hejtmancik; S Amer Riazuddin; Radha Ayyagari
Journal:  Hum Mol Genet       Date:  2017-12-01       Impact factor: 6.150
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