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Literature DB >> 23640411

Holoprosencephaly: report of four cases and genotype-phenotype correlations.

Francesca Lami¹, Diana Carli, Paola Ferrari, Monica Marini, Viola Alesi, Lorenzo Iughetti, Antonio Percesepe.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2013 PMID： 23640411 DOI： 10.1007/s12041-013-0215-5

Source DB: PubMed Journal: J Genet ISSN： 0022-1333 Impact factor: 1.166

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18 in total

Review 1. Incomplete Currarino triad as an embryological variant. Case report and review of the literature.

Authors: Mehmet Turgut; Emre Cullu; Hakan Ulucan
Journal: J Neurosurg Date: 2006-12 Impact factor: 5.115

2. Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia.

Authors: Alexander Volk; Mohsen Karbasiyan; Alexander Semmler; Unda Todt; Horst Urbach; Thomas Klockgether; Michael Linnebank
Journal: Birth Defects Res A Clin Mol Teratol Date: 2007-03

3. New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.

Authors: Sandra Mercier; Christèle Dubourg; Nicolas Garcelon; Boris Campillo-Gimenez; Isabelle Gicquel; Marion Belleguic; Leslie Ratié; Laurent Pasquier; Philippe Loget; Claude Bendavid; Sylvie Jaillard; Lucie Rochard; Chloé Quélin; Valérie Dupé; Véronique David; Sylvie Odent
Journal: J Med Genet Date: 2011-09-22 Impact factor: 6.318

4. The product of hedgehog autoproteolytic cleavage active in local and long-range signalling.

Authors: J A Porter; D P von Kessler; S C Ekker; K E Young; J J Lee; K Moses; P A Beachy
Journal: Nature Date: 1995-03-23 Impact factor: 49.962

Review 5. Idiopathic syringomyelia: retrospective case series, comprehensive review, and update on management.

Authors: Anil K Roy; Nicholas P Slimack; Aruna Ganju
Journal: Neurosurg Focus Date: 2011-12 Impact factor: 4.047

6. The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Authors: L Nanni; J E Ming; M Bocian; K Steinhaus; D W Bianchi; C Die-Smulders; A Giannotti; K Imaizumi; K L Jones; M D Campo; R A Martin; P Meinecke; M E Pierpont; N H Robin; I D Young; E Roessler; M Muenke
Journal: Hum Mol Genet Date: 1999-12 Impact factor: 6.150

Holoprosencephaly: report of four cases and genotype-phenotype correlations.

Review 1. Incomplete Currarino triad as an embryological variant. Case report and review of the literature.

2. Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia.

3. New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.

4. The product of hedgehog autoproteolytic cleavage active in local and long-range signalling.

Review 5. Idiopathic syringomyelia: retrospective case series, comprehensive review, and update on management.

6. The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Review 7. De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly.

Review 8. Autosomal dominant sacral agenesis: Currarino syndrome.

9. A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.

10. Esophageal stenosis in a child presenting a de novo 7q terminal deletion.

Review 1. Developmental disorders of the dentition: an update.

2. Alobar Holoprosencephaly Associated with Meningomyelocoele and Omphalocoele: An Unusual Coexistence.