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Literature DB >> 14334740

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

Abstract

Entities: Disease

Keywords: ABNORMALITIES; ALOPECIA; BLOOD GROUPS; BRAIN DISEASES; CHROMOSOME ABNORMALITIES; GENETICS, HUMAN; INFANT; LIMBIC SYSTEM; MENTAL RETARDATION; MONSTERS

Mesh：

Substances：
Blood Group Antigens

Year: 1965 PMID： 14334740 PMCID： PMC1932656

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

× No keyword cloud information.

6 in total

1. PROBABLE DELETION OF THE SHORT ARM OF CHROMOSOME 18.

Authors: H E VANDYKE; A VALDMANIS; J D MANN
Journal: Am J Hum Genet Date: 1964-09 Impact factor: 11.025

2. DELETION OF THE SHORT ARM OF CHROMOSOME 18.

Authors: R L SUMMITT
Journal: Cytogenetics Date: 1964

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

Authors: W DEMYER; W ZEMAN; C D PALMER
Journal: Neurology Date: 1963-11 Impact factor: 9.910

4. [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

5. Arhinencephaly.

Authors: J W LANDAU; J M BARRY; R KOCH
Journal: J Pediatr Date: 1963-06 Impact factor: 4.406

6. Cebocephaly with endocrine dysgenesis. Report of 3 cases.

Authors: J C HAWORTH; H MEDOVY; A J LEWIS
Journal: J Pediatr Date: 1961-11 Impact factor: 4.406

6 in total

29 in total

Review 1. Telomeres: a diagnosis at the end of the chromosomes.

Authors: B B A De Vries; R Winter; A Schinzel; C van Ravenswaaij-Arts
Journal: J Med Genet Date: 2003-06 Impact factor: 6.318

2. A 46,XY, del(18)(pter leads to p1 100:) cebocephalic child from a 46,XX,t(12;18)(18pter leads to 18 p 1100:: 12qter leads to 12pter) normal parent.

Authors: G Johnson; R Bachman
Journal: Hum Genet Date: 1976-09-10 Impact factor: 4.132

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

1. PROBABLE DELETION OF THE SHORT ARM OF CHROMOSOME 18.

2. DELETION OF THE SHORT ARM OF CHROMOSOME 18.

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

4. [3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME].

5. Arhinencephaly.

6. Cebocephaly with endocrine dysgenesis. Report of 3 cases.

Review 1. Telomeres: a diagnosis at the end of the chromosomes.

2. A 46,XY, del(18)(pter leads to p1 100:) cebocephalic child from a 46,XX,t(12;18)(18pter leads to 18 p 1100:: 12qter leads to 12pter) normal parent.

3. Further studies on the genetic heterogeneity of cebocephaly.

Review 4. Heart disease associated with deletion of the short arm of chromosome 18.

Review 5. [Ring chromosome 18. 18p-/18q- -deletion-syndrome].

Review 6. Partial monosomies 18. Review of cytogenetical and phenotypical variants.

Review 7. Malformations of kidney and urinary tract in common chromosomal aberrations. II. Morphogenetic studies.

8. Genetic heterogeneity of cebocephaly.

Review 9. [On the problem of assigning genes to definite human autosomes with the aid of chromosome aberrations].

10. Inherited t(13q14q) in two retarded sisters.