Literature DB >> 8563748

What's in a face?

R M Winter1.   

Abstract

Genetic syndromes causing human facial abnormalities have been extensively studied from the clinical point of view. In these syndromes, distinctive facial features are frequently associated with specific defects of other organ systems, and the genes responsible must all play a significant part in normal development. In this paper genes causing craniofacial abnormalities, that have either been mapped or isolated, are reviewed.

Entities:  

Mesh：

Year:  1996        PMID： 8563748     DOI： 10.1038/ng0296-124

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  16 in total

1.  Patterns of dysmorphic features in schizophrenia.

Authors:  L E Scutt; E W Chow; R Weksberg; W G Honer; A S Bassett
Journal:  Am J Med Genet       Date:  2001-12-08

2.  Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.

Authors:  R Wallerstein; C E Anderson; B Hay; P Gupta; L Gibas; K Ansari; F S Cowchock; V Weinblatt; C Reid; A Levitas; L Jackson
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

3.  Discriminating power of localized three-dimensional facial morphology.

Authors:  Peter Hammond; Tim J Hutton; Judith E Allanson; Bernard Buxton; Linda E Campbell; Jill Clayton-Smith; Dian Donnai; Annette Karmiloff-Smith; Kay Metcalfe; Kieran C Murphy; Michael Patton; Barbara Pober; Katrina Prescott; Pete Scambler; Adam Shaw; Ann C M Smith; Angela F Stevens; I Karen Temple; Raoul Hennekam; May Tassabehji
Journal:  Am J Hum Genet       Date:  2005-10-26       Impact factor: 11.025

4.  Encephalocraniocutaneous lipomatosis syndrome in a child: association with multiple high flow cerebral arteriovenous fistulae. Case report and review.

Authors:  L L Batista; J Mahadevan; M Sachet; B Husson; J Rasmussen; H Alvarez; P Lasjaunias
Journal:  Interv Neuroradiol       Date:  2004-10-20       Impact factor: 1.610

Review 5.  22q11 deletion syndrome: a genetic subtype of schizophrenia.

Authors:  A S Bassett; E W Chow
Journal:  Biol Psychiatry       Date:  1999-10-01       Impact factor: 13.382

6.  Genetic determination of human facial morphology: links between cleft-lips and normal variation.

Authors:  Stefan Boehringer; Fedde van der Lijn; Fan Liu; Manuel Günther; Stella Sinigerova; Stefanie Nowak; Kerstin U Ludwig; Ruth Herberz; Stefan Klein; Albert Hofman; Andre G Uitterlinden; Wiro J Niessen; Monique M B Breteler; Aad van der Lugt; Rolf P Würtz; Markus M Nöthen; Bernhard Horsthemke; Dagmar Wieczorek; Elisabeth Mangold; Manfred Kayser
Journal:  Eur J Hum Genet       Date:  2011-06-22       Impact factor: 4.246

7.  Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome.

Authors:  M J Crawford; C Lanctôt; J J Tremblay; N Jenkins; D Gilbert; N Copeland; B Beatty; J Drouin
Journal:  Mamm Genome       Date:  1997       Impact factor: 2.957

8.  AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice.

Authors:  T Nottoli; S Hagopian-Donaldson; J Zhang; A Perkins; T Williams
Journal:  Proc Natl Acad Sci U S A       Date:  1998-11-10       Impact factor: 11.205

9.  3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies.

Authors:  Hanne Hoskens; Dongjing Liu; Sahin Naqvi; Myoung Keun Lee; Ryan J Eller; Karlijne Indencleef; Julie D White; Jiarui Li; Maarten H D Larmuseau; Greet Hens; Joanna Wysocka; Susan Walsh; Stephen Richmond; Mark D Shriver; John R Shaffer; Hilde Peeters; Seth M Weinberg; Peter Claes
Journal:  PLoS Genet       Date:  2021-05-13       Impact factor: 5.917

10.  Copy number variation in intron 1 of SOX5 causes the Pea-comb phenotype in chickens.

Authors:  Dominic Wright; Henrik Boije; Jennifer R S Meadows; Bertrand Bed'hom; David Gourichon; Agathe Vieaud; Michèle Tixier-Boichard; Carl-Johan Rubin; Freyja Imsland; Finn Hallböök; Leif Andersson
Journal:  PLoS Genet       Date:  2009-06-12       Impact factor: 5.917
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