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Literature DB >> 5895684

Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.

K Hirschhorn, H L Cooper, I L Firschein.

Abstract

Entities: Disease Species

Mesh：

Year: 1965 PMID： 5895684 DOI： 10.1007/bf00279124

Source DB: PubMed Journal: Humangenetik ISSN： 0018-7348

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3 in total

1. [3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME].

Authors: J LEJEUNE; J LAFOURCADE; R BERGER; J VIALATTE; M BOESWILLWALD; P SERINGE; R TURPIN
Journal: C R Hebd Seances Acad Sci Date: 1963-11-18

2. CHROMOSOMAL AUTORADIOGRAPHY IN THE CRI DU CHAT SYNDROME.

Authors: J GERMAN; J LEJEUNE; M N MACINTYRE; J DE GROUCHY
Journal: Cytogenetics Date: 1964

3. [Deficiency on the short arms of a chromosome No. 4].

Authors: U Wolf; H Reinwein; R Porsch; R Schröter; H Baitsch
Journal: Humangenetik Date: 1965

3 in total

58 in total

1. A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications.

Authors: Aline L Petrin; Sandra Daack-Hirsch; Jamie L'Heureux; Jeffrey C Murray
Journal: Cleft Palate Craniofac J Date: 2010-05-04

2. C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development.

Authors: Sabine Endele; Claudia Nelkenbrecher; Annegret Bördlein; Stefanie Schlickum; Andreas Winterpacht
Journal: Neurogenetics Date: 2011-02-02 Impact factor: 2.660

3. A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

Authors: J Goodship; A Curtis; I Cross; J Brown; J Emslie; J Wolstenholme; S Bhattacharya; J Burn
Journal: J Med Genet Date: 1992-07 Impact factor: 6.318

Review 4. Wolf syndrome.

Authors: D S Katz; T H Smith
Journal: Pediatr Radiol Date: 1991

5. Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

Authors: Yue Luo; Karen E Hermetz; Jodi M Jackson; Jennifer G Mulle; Anne Dodd; Karen D Tsuchiya; Blake C Ballif; Lisa G Shaffer; Jannine D Cody; David H Ledbetter; Christa L Martin; M Katharine Rudd
Journal: Hum Mol Genet Date: 2011-07-04 Impact factor: 6.150

6. Ring chromosome 4 and Wolf syndrome.

Authors: A Pérez-Castillo; J A Abrisqueta
Journal: Hum Genet Date: 1977-06-10 Impact factor: 4.132

7. Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.

Authors: Danielle A Callaway; Ian M Campbell; Samantha R Stover; Andres Hernandez-Garcia; Shalini N Jhangiani; Jaya Punetha; Ingrid S Paine; Jennifer E Posey; Donna Muzny; Kevin P Lally; James R Lupski; Chad A Shaw; Caraciolo J Fernandes; Daryl A Scott
Journal: J Pediatr Genet Date: 2018-05-30