Literature DB >> 8411075

Nager acrofacial dysostosis.

M T McDonald1, J L Gorski.   

Abstract

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Year:  1993        PMID： 8411075      PMCID： PMC1016537          DOI： 10.1136/jmg.30.9.779

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


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  32 in total

Review 1.  THE TREACHER-COLLINS SYNDROME.

Authors:  A O FERNANDEZ; M L RONIS
Journal:  Arch Otolaryngol       Date:  1964-11

2.  CONGENITAL ANOMALIES IN THE NEWBORN INFANT, INCLUDING MINOR VARIATIONS. A STUDY OF 4,412 BABIES BY SURFACE EXAMINATION FOR ANOMALIES AND BUCCAL SMEAR FOR SEX CHROMATIN.

Authors:  P M MARDEN; D W SMITH; M J MCDONALD
Journal:  J Pediatr       Date:  1964-03       Impact factor: 4.406

3.  Mandibulofacial dysostosis.

Authors:  Y C CHOU
Journal:  Chin Med J       Date:  1960-04

4.  The surgical treatment of the atresia auris congenita; a clinical and histological report.

Authors:  L RUEDI
Journal:  Laryngoscope       Date:  1954-08       Impact factor: 3.325

5.  Nager acrofacial dysostosis: autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son.

Authors:  B D Hall
Journal:  Am J Med Genet       Date:  1989-07

6.  Nager anomaly with severe facial involvement, microcephaly, and mental retardation.

Authors:  A Palomeque; X Pastor; F Ballesta
Journal:  Am J Med Genet       Date:  1990-07

7.  Apparent autosomal recessive inheritance of the Treacher Collins syndrome.

Authors:  F A Walker
Journal:  Birth Defects Orig Artic Ser       Date:  1974

8.  [Familial case of the syndrome of ectrodactyly and mandibulo-facial dysostosis].

Authors:  G Fontaine; J P Farriaux; P Delattre; Z Gidlecki; B Poupard; G Durieux; J J Piquet
Journal:  J Genet Hum       Date:  1974-12

9.  [An extensive form of mandibulo-facial dysostosis (Franceschetti) with malformations of the extremities and other congenital anomalies in a girl whose brother presents only an incomplete form of the syndrome (fistula auris congenita retrotragica)].

Authors:  D Klein; H König; R Toller
Journal:  Rev Otoneuroophtalmol       Date:  1970-11

10.  Mandibulofacial dysostosis.

Authors:  R G Jones
Journal:  Cent Afr J Med       Date:  1968-09
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  12 in total

1.  Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development.

Authors:  D P Szeto; C Rodriguez-Esteban; A K Ryan; S M O'Connell; F Liu; C Kioussi; A S Gleiberman; J C Izpisúa-Belmonte; M G Rosenfeld
Journal:  Genes Dev       Date:  1999-02-15       Impact factor: 11.361

Review 2.  Facial dysostoses: Etiology, pathogenesis and management.

Authors:  Paul A Trainor; Brian T Andrews
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-04       Impact factor: 3.908

Review 3.  Review of the Genetic Basis of Jaw Malformations.

Authors:  Mairaj K Ahmed; Xiaoqian Ye; Peter J Taub
Journal:  J Pediatr Genet       Date:  2016-10-12

Review 4.  Genetic Advances in the Understanding of Microtia.

Authors:  Craig Gendron; Ann Schwentker; John A van Aalst
Journal:  J Pediatr Genet       Date:  2016-09-23

5.  Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome.

Authors:  Arun Devotta; Hugo Juraver-Geslin; Jose Antonio Gonzalez; Chang-Soo Hong; Jean-Pierre Saint-Jeannet
Journal:  Dev Biol       Date:  2016-02-11       Impact factor: 3.582

6.  A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.

Authors:  Marco Castori; Irene Bottillo; Daniela D'Angelantonio; Silvia Morlino; Carmelilia De Bernardo; Giovanna Scassellati Sforzolini; Evelina Silvestri; Paola Grammatico
Journal:  Mol Syndromol       Date:  2014-08-05

7.  Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Authors:  Francois P Bernier; Oana Caluseriu; Sarah Ng; Jeremy Schwartzentruber; Kati J Buckingham; A Micheil Innes; Ethylin Wang Jabs; Jeffrey W Innis; Jane L Schuette; Jerome L Gorski; Peter H Byers; Gregor Andelfinger; Victoria Siu; Julie Lauzon; Bridget A Fernandez; Margaret McMillin; Richard H Scott; Hilary Racher; Jacek Majewski; Deborah A Nickerson; Jay Shendure; Michael J Bamshad; Jillian S Parboosingh
Journal:  Am J Hum Genet       Date:  2012-04-26       Impact factor: 11.025

8.  Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.

Authors:  J C Czeschik; C Voigt; Y Alanay; B Albrecht; S Avci; D Fitzpatrick; D R Goudie; U Hehr; A J Hoogeboom; H Kayserili; P O Simsek-Kiper; L Klein-Hitpass; A Kuechler; V López-González; M Martin; S Rahmann; B Schweiger; M Splitt; B Wollnik; H-J Lüdecke; M Zeschnigk; D Wieczorek
Journal:  Hum Genet       Date:  2013-04-09       Impact factor: 4.132

9.  Dental Management of a Patient with Nager Acrofacial Dysostosis.

Authors:  R Bozatlıoğlu; A P Münevveroğlu
Journal:  Case Rep Dent       Date:  2015-10-07

10.  Propranolol-induced gingival hyperplasia with Nager syndrome: A rare adverse drug reaction.

Authors:  Syed Ahamed Raheel; Omar Bashar Kujan; Bassel Tarakji; Dilshad Umar; Salah Ibrahim
Journal:  J Adv Pharm Technol Res       Date:  2016 Apr-Jun
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