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Literature DB >> 14079950

FAMILIAL ALOBAR HOLOPROSENCEPHALY (ARHINENCEPHALY) WITH MEDIAN CLEFT LIP AND PALATE. REPORT OF PATIENT WITH 46 CHROMOSOMES.

Abstract

Entities: Disease Species

Keywords: ABNORMALITIES; BRAIN DISEASES; CHROMOSOMES; CLEFT LIP; CLEFT PALATE; GENETICS, HUMAN; INFANT, NEWBORN; TRISOMY

Mesh：

Year: 1963 PMID： 14079950 DOI： 10.1212/wnl.13.11.913

Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910

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Cited

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18 in total

1. FAMILIAL SHORT ARM DEFICIENCY OF CHROMOSOME 18 CONCOMITANT WITH ARHINENCEPHALY AND ALOPECIA CONGENITA.

Authors: I A UCHIDA; K N MCRAE; M RAY
Journal: Am J Hum Genet Date: 1965-09 Impact factor: 11.025

Review 2. Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

Authors: Iêda M Orioli; Emmanuelle Amar; Marian K Bakker; Eva Bermejo-Sánchez; Fabrizio Bianchi; Mark A Canfield; Maurizio Clementi; Adolfo Correa; Melinda Csáky-Szunyogh; Marcia L Feldkamp; Danielle Landau; Emanuele Leoncini; Zhu Li; R Brian Lowry; Pierpaolo Mastroiacovo; Margery Morgan; Osvaldo M Mutchinick; Anke Rissmann; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Eduardo E Castilla
Journal: Am J Med Genet C Semin Med Genet Date: 2011-10-17 Impact factor: 3.908

FAMILIAL ALOBAR HOLOPROSENCEPHALY (ARHINENCEPHALY) WITH MEDIAN CLEFT LIP AND PALATE. REPORT OF PATIENT WITH 46 CHROMOSOMES.

1. FAMILIAL SHORT ARM DEFICIENCY OF CHROMOSOME 18 CONCOMITANT WITH ARHINENCEPHALY AND ALOPECIA CONGENITA.

Review 2. Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

3. Angiographic features of alobar holoprosencephaly.

4. [Familial microcephalies due to cerebral malformation. Anatomical and clinical study].

5. Arrhinencephaly associated with a deficiency involving chromosome 18.

6. Median facial cleft associated with ring E chromosome.

7. A case of suspected teratogenic holoprosencephaly.

8. Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male.

9. Median cleft lip: A new method of surgical repair.

10. Cyclopia: isolated and with agnathia-otocephaly complex.