Literature DB >> 5501701

Trisomy E (18) syndrome: clinical spectrum in 12 new cases, including chromosome autoradiography in 4.

F M Weber, R S Sparkes.   

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Year:  1970        PMID： 5501701      PMCID： PMC1468947          DOI： 10.1136/jmg.7.4.363

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  13 in total

1.  DEOXYRIBOSE-NUCLEIC-ACID REPLICATION PATTERN OF TRISOMY 18.

Authors:  J J YUNIS; E B HOOK; M MAYER
Journal:  Lancet       Date:  1964-08-08       Impact factor: 79.321

2.  DNA REPLICATION PATTERNS OF HUMAN CHROMOSOMES.

Authors:  W SCHMID
Journal:  Cytogenetics       Date:  1963

3.  Trisomy-17 syndrome. Report of three cases and review of the literature.

Authors:  M I GOTTLIEB; K HIRSCHHORN; H L COOPER; N LUSSKIN; R E MOLOSHOK; H L HODES
Journal:  Am J Med       Date:  1962-11       Impact factor: 4.965

4.  Dermal patterns of 18 and D1 trisomics.

Authors:  I A UCHIDA; K PATAU; D W SMITH
Journal:  Am J Hum Genet       Date:  1962-12       Impact factor: 11.025

5.  Time-sequence of human chromosome duplication.

Authors:  C W GILBERT; S MULDAL; L G LAJTHA; J ROWLEY
Journal:  Nature       Date:  1962-09-01       Impact factor: 49.962

6.  A new trisomic syndrome.

Authors:  J H EDWARDS; D G HARNDEN; A H CAMERON; V M CROSSE; O H WOLFF
Journal:  Lancet       Date:  1960-04-09       Impact factor: 79.321

7.  THE SOMATIC CHOMOSOMES OF MAN.

Authors:  J H Tjio; T T Puck
Journal:  Proc Natl Acad Sci U S A       Date:  1958-12-15       Impact factor: 11.205

8.  Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.

Authors:  A I Taylor
Journal:  J Med Genet       Date:  1968-09       Impact factor: 6.318

Review 9.  Congenital malformations in autosomal trisomy syndromes.

Authors:  J Warkany; E Passarge; L B Smith
Journal:  Am J Dis Child       Date:  1966-12

10.  Survival and the sex ratio in trisomy 17-18.

Authors:  W W Weber
Journal:  Am J Hum Genet       Date:  1967-05       Impact factor: 11.025
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  5 in total

1.  Type II Arnold-Chiari malformation with normal spine in trisomy 18.

Authors:  M E Case; H B Sarnat; P Monteleone
Journal:  Acta Neuropathol       Date:  1977-03-31       Impact factor: 17.088

2.  Chromosome number 18.

Authors:  D J Curtis
Journal:  Humangenetik       Date:  1973-05-25

3.  PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes.

Authors:  Sebastian Niehus; Hákon Jónsson; Janina Schönberger; Eythór Björnsson; Doruk Beyter; Hannes P Eggertsson; Patrick Sulem; Kári Stefánsson; Bjarni V Halldórsson; Birte Kehr
Journal:  Nat Commun       Date:  2021-02-01       Impact factor: 14.919

4.  Psychiatric genomics researchers' perspectives on best practices for returning results to individual participants.

Authors:  Kristin Kostick; Stacey Pereira; Cody Brannan; Laura Torgerson; Gabriel Lázaro-Muñoz
Journal:  Genet Med       Date:  2019-09-03       Impact factor: 8.822

5.  Nucleosome positioning stability is a modulator of germline mutation rate variation across the human genome.

Authors:  Cai Li; Nicholas M Luscombe
Journal:  Nat Commun       Date:  2020-03-13       Impact factor: 14.919
  5 in total

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