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Literature DB >> 14316612

[DOMINANT HEREDITARY ACROCEPHALOSYNDACTYLIA].

R A PFEIFFER.

Abstract

Keywords: ACROCEPHALOSYNDACTYLIA; GENETICS, HUMAN; HYDRAMNIOS

Mesh：

Year: 1964 PMID： 14316612

Source DB: PubMed Journal: Z Kinderheilkd ISSN： 0044-2917

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Cited

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32 in total

1. Analysis of mutations in fibroblast growth factor (FGF) and a pathogenic mutation in FGF receptor (FGFR) provides direct evidence for the symmetric two-end model for FGFR dimerization.

Authors: Omar A Ibrahimi; Brian K Yeh; Anna V Eliseenkova; Fuming Zhang; Shaun K Olsen; Makoto Igarashi; Stuart A Aaronson; Robert J Linhardt; Moosa Mohammadi
Journal: Mol Cell Biol Date: 2005-01 Impact factor: 4.272

2. Studies of malformation syndromes in man XXXVI: the Pfeiffer syndrome, association with Kleeblattschädel and multiple visceral anomalies. Case report and review.

Authors: R J Hodach; C Viseskul; E F Gilbert; J P Herrmann; J J Wolfson; E G Kaveggia; J M Opitz
Journal: Z Kinderheilkd Date: 1975

3. Abnormal births and other "ill omens" : The adaptive case for infanticide.

Authors: C M Hill; H L Ball
Journal: Hum Nat Date: 1996-12

4. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Authors: M Muenke; K W Gripp; D M McDonald-McGinn; K Gaudenz; L A Whitaker; S P Bartlett; R I Markowitz; N H Robin; N Nwokoro; J J Mulvihill; H W Losken; J B Mulliken; A E Guttmacher; R S Wilroy; L A Clarke; G Hollway; L C Adès; E A Haan; J C Mulley; M M Cohen; G A Bellus; C A Francomano; D M Moloney; S A Wall; A O Wilkie
Journal: Am J Hum Genet Date: 1997-03 Impact factor: 11.025

9. The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family.

Authors: Z Kopyść; M Stańska; J Ryzko; B Kulczyk
Journal: Hum Genet Date: 1980 Impact factor: 4.132

Review 10. A case of Pfeiffer syndrome.

Authors: Moon Sung Park; Jae Eon Yoo; Jaiho Chung; Soo Han Yoon
Journal: J Korean Med Sci Date: 2006-04 Impact factor: 2.153

[DOMINANT HEREDITARY ACROCEPHALOSYNDACTYLIA].

1. Analysis of mutations in fibroblast growth factor (FGF) and a pathogenic mutation in FGF receptor (FGFR) provides direct evidence for the symmetric two-end model for FGFR dimerization.

2. Studies of malformation syndromes in man XXXVI: the Pfeiffer syndrome, association with Kleeblattschädel and multiple visceral anomalies. Case report and review.

3. Abnormal births and other "ill omens" : The adaptive case for infanticide.

4. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

5. Autosomal dominant trigonocephaly.

Review 6. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.

7. A model for the pharmacological treatment of crouzon syndrome.

8. Cloverleaf skull associated with Pfeiffer syndrome: pathology and management.

9. The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family.

Review 10. A case of Pfeiffer syndrome.