Literature DB >> 14484286

Partial-trisomy syndromes. II. An insertion as cause of the OFD syndrome in mother and daughter.

K PATAU, E THERMAN, S L INHORN, D W SMITH, A L RUESS.   

Abstract

Entities:  

Keywords:  CHROMOSOMES; FACE/abnormalities; HAND/abnormalities; MOUTH/abnormalities

Mesh：

Year:  1961        PMID： 14484286     DOI： 10.1007/BF00328943

Source DB:  PubMed          Journal:  Chromosoma        ISSN： 0009-5915            Impact factor:   4.316


× No keyword cloud information.
  6 in total

1.  Hypertrophied frenuli, oligophrenia, famflial trembling and anomalies of the hand. Report of four casesin one family and a forme fruste in another.

Authors:  R J GORLIN; V E ANDERSON; C R SCOTT
Journal:  N Engl J Med       Date:  1961-03-09       Impact factor: 91.245

2.  Chromosome identification and the Denver report.

Authors:  K PATAU
Journal:  Lancet       Date:  1961-04-29       Impact factor: 79.321

3.  The D triisomy syndrome and XO gonadal dysgenesis in two sisters.

Authors:  E THERMAN; K PATAU; D W SMITH; R I DEMARS
Journal:  Am J Hum Genet       Date:  1961-06       Impact factor: 11.025

4.  [Abnormalities of the buccal frena].

Authors:  J PSAUME
Journal:  Actual Odontostomatol (Paris)       Date:  1954-03

5.  [Hereditary abnormality of the buccal mucosa: abnormal bands and frenula].

Authors:  J PSAUME
Journal:  Revue Stomatol       Date:  1954-04

6.  The oral-facial-digital syndrome: a multiple congenital condition of females with associated chromosomal abnormalities.

Authors:  A L RUESS; S PRUZANSKY; E F LIS; K PATAU
Journal:  Pediatrics       Date:  1962-06       Impact factor: 7.124
  6 in total
  25 in total

1.  A FAMILIAL CHROMOSOME VARIANT IN A SUBJECT WITH ANOMALOUS SEX DIFFERENTIATION.

Authors:  H L COOPER; R HERNITS
Journal:  Am J Hum Genet       Date:  1963-12       Impact factor: 11.025

2.  A PROBABLE CASE OF INCOMPLETE TRISOMY OF A CHROMOSOME OF THE 13-15 GROUP.

Authors:  J ISHMAEL; K M LAURENCE
Journal:  J Med Genet       Date:  1965-06       Impact factor: 6.318

3.  Chromosomal study in patients with cysts of the jaw, multiple nevoid basal cell carcinomata and bifid rib syndrome.

Authors:  J J YUNIS; R J GORLIN
Journal:  Chromosoma       Date:  1963       Impact factor: 4.316

4.  [Chromosome anomalies in the blood cells of a child with multiple abnormalities].

Authors:  R A PFEIFFER; G SCHELLONG; W KOSENOW
Journal:  Klin Wochenschr       Date:  1962-10-15

5.  The demonstration of secondary constrictions in human chromosomes by means of a new technique.

Authors:  M S SASAKI; S MAKINO
Journal:  Am J Hum Genet       Date:  1963-03       Impact factor: 11.025

6.  An insertional translocation in neurospora that generates duplications heterozygous for mating type.

Authors:  D D Perkins
Journal:  Genetics       Date:  1972-05       Impact factor: 4.562

7.  A cytogenetic study of recurrent abortion.

Authors:  M K Bhasin; W Foerster; W Fuhrmann
Journal:  Humangenetik       Date:  1973-04-16

8.  Spontaneous fragility of an abnormally wide secondary constriction region in a human chromosome no. 9.

Authors:  W Schmid; D Vischer
Journal:  Humangenetik       Date:  1969

9.  Systemic associations of uveal coloboma.

Authors:  P M James; A G Karseras; K C Wybar
Journal:  Br J Ophthalmol       Date:  1974-11       Impact factor: 4.638

10.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.