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Literature DB >> 23645319

Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia.

S Gimelli¹, C Cuoco, P Ronchetto, G Gimelli, E Tassano.

Abstract

Entities: Disease

Mesh：

Year: 2013 PMID： 23645319 DOI： 10.1007/s13353-013-0150-4

Source DB: PubMed Journal: J Appl Genet ISSN： 1234-1983 Impact factor: 3.240

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15 in total

Review 1. Thyroid physiology.

Authors: Nikolaos Stathatos
Journal: Med Clin North Am Date: 2012-02-01 Impact factor: 5.456

2. Evolution and functional classification of vertebrate gene deserts.

Authors: Ivan Ovcharenko; Gabriela G Loots; Marcelo A Nobrega; Ross C Hardison; Webb Miller; Lisa Stubbs
Journal: Genome Res Date: 2004-12-08 Impact factor: 9.043

3. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

Authors: Christiane Tasse; Stefan Böhringer; Sven Fischer; Hermann-Josef Lüdecke; Beate Albrecht; Denise Horn; Andreas Janecke; Rainer Kling; Rainer König; Birgit Lorenz; Frank Majewski; Elisabeth Maeyens; Peter Meinecke; Beate Mitulla; Christopher Mohr; Monika Preischl; Horst Umstadt; Jürgen Kohlhase; Gabriele Gillessen-Kaesbach; Dagmar Wieczorek
Journal: Eur J Med Genet Date: 2005-06-08 Impact factor: 2.708

4. Flrt2 and Flrt3 have overlapping and non-overlapping expression during craniofacial development.

Authors: S-G Gong; S Mai; K Chung; K Wei
Journal: Gene Expr Patterns Date: 2009-07-25 Impact factor: 1.224

5. Regulated expression of FLRT genes implies a functional role in the regulation of FGF signalling during mouse development.

Authors: Bryan P Haines; Lee M Wheldon; Dennis Summerbell; John K Heath; Peter W J Rigby
Journal: Dev Biol Date: 2006-04-21 Impact factor: 3.582

6. Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome.

Authors: D Kelberman; J Tyson; D C Chandler; A M McInerney; J Slee; D Albert; A Aymat; M Botma; M Calvert; J Goldblatt; E A Haan; N G Laing; J Lim; S Malcolm; S L Singer; R M Winter; M Bitner-Glindzicz
Journal: Hum Genet Date: 2001-10-26 Impact factor: 4.132

Review 7. Deiodinases: the balance of thyroid hormone: local control of thyroid hormone action: role of type 2 deiodinase.

Authors: Graham R Williams; J H Duncan Bassett
Journal: J Endocrinol Date: 2011-02-03 Impact factor: 4.286

Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia.

Review 1. Thyroid physiology.

2. Evolution and functional classification of vertebrate gene deserts.

3. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

4. Flrt2 and Flrt3 have overlapping and non-overlapping expression during craniofacial development.

5. Regulated expression of FLRT genes implies a functional role in the regulation of FGF signalling during mouse development.

6. Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome.

Review 7. Deiodinases: the balance of thyroid hormone: local control of thyroid hormone action: role of type 2 deiodinase.

8. Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.

Review 9. Ultraconserved elements: genomics, function and disease.

10. Molecular analysis of three patients with interstitial deletions of chromosome band 14q31.

1. Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype.