Literature DB >> 17496989

Classical cornelia de lange syndrome.

Ev Badoe1.   

Abstract

SummaryThese two case reports illustrate the importance of doing a thorough dysmorphology examination for all so called "Multiple congenital anomalies" children and attempting to fit them into a recognized syndrome. Well over 2000 dysmorphic syndromes are now recognized and diagnosis of these children can be extremely difficult.

Entities:  

Year:  2006        PMID： 17496989      PMCID： PMC1868009     

Source DB:  PubMed          Journal:  Ghana Med J        ISSN： 0016-9560


  9 in total

1.  Brachmann-de Lange syndrome. Delineation of the clinical phenotype.

Authors:  M Ireland; D Donnai; J Burn
Journal:  Am J Med Genet       Date:  1993-11-15

2.  Brachmann-de Lange syndrome "avant la lettre".

Authors:  R J Oostra; B Baljet; R C Hennekam
Journal:  Am J Med Genet       Date:  1994-09-01

Review 3.  Autosomal dominant inheritance of Brachmann-de Lange syndrome.

Authors:  C Kozma
Journal:  Am J Med Genet       Date:  1996-12-30

4.  Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome.

Authors:  M T Goodban
Journal:  Am J Med Genet       Date:  1993-11-15

5.  Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome.

Authors:  C Cunniff; C J Curry; J C Carey; J M Graham; C A Williams; S Stengel-Rutkowski; S Lüttgen; P Meinecke
Journal:  Am J Med Genet       Date:  1993-11-15

6.  Gastrointestinal abnormalities: a significant cause of feeding difficulties and failure to thrive in Brachmann-de Lange syndrome.

Authors:  M J Bull; J F Fitzgerald; S A Heifetz; T J Brei
Journal:  Am J Med Genet       Date:  1993-11-15

7.  Growth manifestations in the Brachmann-de Lange syndrome.

Authors:  A D Kline; M Barr; L G Jackson
Journal:  Am J Med Genet       Date:  1993-11-15

8.  NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Authors:  Lynette A Gillis; Jennifer McCallum; Maninder Kaur; Cheryl DeScipio; Dinah Yaeger; Allison Mariani; Antonie D Kline; Hui-hua Li; Marcella Devoto; Laird G Jackson; Ian D Krantz
Journal:  Am J Hum Genet       Date:  2004-08-18       Impact factor: 11.025

9.  Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

Authors:  Ian D Krantz; Jennifer McCallum; Cheryl DeScipio; Maninder Kaur; Lynette A Gillis; Dinah Yaeger; Lori Jukofsky; Nora Wasserman; Armand Bottani; Colleen A Morris; Malgorzata J M Nowaczyk; Helga Toriello; Michael J Bamshad; John C Carey; Eric Rappaport; Shimako Kawauchi; Arthur D Lander; Anne L Calof; Hui-Hua Li; Marcella Devoto; Laird G Jackson
Journal:  Nat Genet       Date:  2004-05-16       Impact factor: 38.330
  9 in total
  3 in total

1.  Cornelia de Lange syndrome in diverse populations.

Authors:  Leah Dowsett; Antonio R Porras; Paul Kruszka; Brandon Davis; Tommy Hu; Engela Honey; Eben Badoe; Meow-Keong Thong; Eyby Leon; Katta M Girisha; Anju Shukla; Shalini S Nayak; Vorasuk Shotelersuk; Andre Megarbane; Shubha Phadke; Nirmala D Sirisena; Vajira H W Dissanayake; Carlos R Ferreira; Monisha S Kisling; Pranoot Tanpaiboon; Annette Uwineza; Leon Mutesa; Cedrik Tekendo-Ngongang; Ambroise Wonkam; Karen Fieggen; Leticia Cassimiro Batista; Danilo Moretti-Ferreira; Roger E Stevenson; Eloise J Prijoles; David Everman; Kate Clarkson; Jessica Worthington; Virginia Kimonis; Fuki Hisama; Carol Crowe; Paul Wong; Kisha Johnson; Robin D Clark; Lynne Bird; Diane Masser-Frye; Marie McDonald; Patrick Willems; Elizabeth Roeder; Sulgana Saitta; Kwame Anyane-Yeoba; Laurie Demmer; Naoki Hamajima; Zornitza Stark; Greta Gillies; Louanne Hudgins; Usha Dave; Stavit Shalev; Victoria Siu; Ann Ades; Holly Dubbs; Sarah Raible; Maninder Kaur; Emanuela Salzano; Laird Jackson; Matthew Deardorff; Antonie Kline; Marshall Summar; Maximilian Muenke; Marius George Linguraru; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2019-01-06       Impact factor: 2.802

2.  Cornelia de lange syndrome.

Authors:  Naeimeh Tayebi
Journal:  Indian J Hum Genet       Date:  2008-01

3.  Cornelia de-lange syndrome: a case report.

Authors:  Diana Noshir Mehta; Rupinder Bhatia
Journal:  Int J Clin Pediatr Dent       Date:  2013-08-26
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.