Literature DB >> 3573005

Behaviour disorder in monosomy 10qter.

L Mehta, D P Duckett, I D Young.   

Abstract

Mesh：

Year:  1987        PMID： 3573005      PMCID： PMC1049957          DOI： 10.1136/jmg.24.3.185

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


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  17 in total

1.  A computerised data base for the diagnosis of rare dysmorphic syndromes.

Authors:  R M Winter; M Baraitser; J M Douglas
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

2.  Smith-Lemli-Opitz syndrome and Hirschsprung disease.

Authors:  A Lipson; A Hayes
Journal:  J Pediatr       Date:  1984-07       Impact factor: 4.406

3.  Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome.

Authors:  R B Lowry
Journal:  Am J Med Genet       Date:  1983-03

4.  Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome.

Authors:  H G Kohler
Journal:  Am J Med Genet       Date:  1983-03

5.  Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome?

Authors:  H V Toriello; S C Bauserman; J V Higgins
Journal:  Am J Med Genet       Date:  1985-06

6.  Further delineation of the C (trigonocephaly) syndrome.

Authors:  R M Antley; D S Hwang; W Theopold; R J Gorlin; T Steeper; D Pitt; D M Danks; E McPherson; H Bartels; H R Wiedemann; J M Opitz
Journal:  Am J Med Genet       Date:  1981

7.  Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia.

Authors:  C Greene; W Pitts; R Rosenfeld; L Luzzatti
Journal:  Clin Genet       Date:  1984-04       Impact factor: 4.438

8.  Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome.

Authors:  K Patterson; K E Toomey; R S Chandra
Journal:  J Pediatr       Date:  1983-09       Impact factor: 4.406

9.  A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations.

Authors:  J C Rutledge; J M Friedman; M J Harrod; G Currarino; C G Wright; L Pinckney; H Chen
Journal:  Am J Med Genet       Date:  1984-10

10.  The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

Authors:  R Salonen; R Herva; R Norio
Journal:  Clin Genet       Date:  1981-05       Impact factor: 4.438
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  7 in total

1.  Monosomy 10qter: a new case.

Authors:  M Teyssier; C Charrin; J Dutruge; C Rousselle
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

2.  A case of two inversion (10) recombinants in a family.

Authors:  P Roberts; J Williams; M A Sills
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

3.  A case of interstitial deletion of 10q25.2----q26.1.

Authors:  D E Rooney; K Williams; D V Coleman; A Habel
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

4.  An epidemiological study of isolated split hand/foot in Hungary, 1975-1984.

Authors:  A E Czeizel; M Vitéz; I Kodaj; W Lenz
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

Review 5.  Genetics of bipolar disorder.

Authors:  Berit Kerner
Journal:  Appl Clin Genet       Date:  2014-02-12

6.  Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.

Authors:  Fátima Lopes; Gabriela Soares; Miguel Gonçalves-Rocha; Jorge Pinto-Basto; Patrícia Maciel
Journal:  Front Genet       Date:  2017-10-09       Impact factor: 4.599

Review 7.  A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.

Authors:  Roxana Popescu; Mihaela Grămescu; Lavinia Caba; Monica-Cristina Pânzaru; Lăcrămioara Butnariu; Elena Braha; Setalia Popa; Cristina Rusu; Georgeta Cardos; Monica Zeleniuc; Violeta Martiniuc; Cristina Gug; Luminiţa Păduraru; Maria Stamatin; Carmen C Diaconu; Eusebiu Vlad Gorduza
Journal:  Genes (Basel)       Date:  2021-12-07       Impact factor: 4.096
  7 in total

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