Literature DB >> 8064827

Velocardiofacial syndrome and DiGeorge sequence.

R J Shprintzen.   

Abstract

Entities:  

Mesh：

Year:  1994        PMID： 8064827      PMCID： PMC1049883          DOI： 10.1136/jmg.31.5.423-b

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


× No keyword cloud information.
  18 in total

1.  Di George anomaly and velocardiofacial syndrome.

Authors:  C A Stevens; J C Carey; A O Shigeoka
Journal:  Pediatrics       Date:  1990-04       Impact factor: 7.124

2.  The syndrome of the congenitally shortened velum. The dual innervation of the soft palate.

Authors:  E Sedlácková
Journal:  Folia Phoniatr (Basel)       Date:  1967

3.  The velo-cardio-facial syndrome: a clinical and genetic analysis.

Authors:  R J Shprintzen; R B Goldberg; D Young; L Wolford
Journal:  Pediatrics       Date:  1981-02       Impact factor: 7.124

4.  DiGeorge syndrome: part of CATCH 22.

Authors:  D I Wilson; J Burn; P Scambler; J Goodship
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

5.  Variable phenotypes in velocardiofacial syndrome with chromosomal deletion.

Authors:  B Motzkin; R Marion; R Goldberg; R Shprintzen; P Saenger
Journal:  J Pediatr       Date:  1993-09       Impact factor: 4.406

Review 6.  Velo-cardio-facial syndrome: a review of 120 patients.

Authors:  R Goldberg; B Motzkin; R Marion; P J Scambler; R J Shprintzen
Journal:  Am J Med Genet       Date:  1993-02-01

7.  Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

Authors:  D Kelly; R Goldberg; D Wilson; E Lindsay; A Carey; J Goodship; J Burn; I Cross; R J Shprintzen; P J Scambler
Journal:  Am J Med Genet       Date:  1993-02-01

8.  A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.

Authors:  R J Shprintzen; R B Goldberg; M L Lewin; E J Sidoti; M D Berkman; R V Argamaso; D Young
Journal:  Cleft Palate J       Date:  1978-01

9.  Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.

Authors:  D A Driscoll; N B Spinner; M L Budarf; D M McDonald-McGinn; E H Zackai; R B Goldberg; R J Shprintzen; H M Saal; J Zonana; M C Jones
Journal:  Am J Med Genet       Date:  1992-09-15

10.  The occult submucous cleft palate.

Authors:  E N Kaplan
Journal:  Cleft Palate J       Date:  1975-10
View more
  9 in total

1.  Copy-number variation associated with congenital anomalies of the kidney and urinary tract.

Authors:  Georgina Caruana; Milagros N Wong; Amanda Walker; Yves Heloury; Nathalie Webb; Lilian Johnstone; Paul A James; Trent Burgess; John F Bertram
Journal:  Pediatr Nephrol       Date:  2014-10-01       Impact factor: 3.714

Review 2.  Phenotypic variability and genetic susceptibility to genomic disorders.

Authors:  Santhosh Girirajan; Evan E Eichler
Journal:  Hum Mol Genet       Date:  2010-08-31       Impact factor: 6.150

3.  22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.

Authors:  F Amati; A Mari; M C Digilio; R Mingarelli; B Marino; A Giannotti; G Novelli; B Dallapiccola
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

4.  Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice.

Authors:  Julien Vermot; Karen Niederreither; Jean-Marie Garnier; Pierre Chambon; Pascal Dollé
Journal:  Proc Natl Acad Sci U S A       Date:  2003-01-31       Impact factor: 11.205

5.  [DiGeorge syndrome/velcardiofacial syndrome: oral and maxillofacial surgery].

Authors:  W Pradel; O Bartsch; R Müller; G Lauer; U Eckelt
Journal:  HNO       Date:  2003-09       Impact factor: 1.284

6.  A copy number variation morbidity map of developmental delay.

Authors:  Gregory M Cooper; Bradley P Coe; Santhosh Girirajan; Jill A Rosenfeld; Tiffany H Vu; Carl Baker; Charles Williams; Heather Stalker; Rizwan Hamid; Vickie Hannig; Hoda Abdel-Hamid; Patricia Bader; Elizabeth McCracken; Dmitriy Niyazov; Kathleen Leppig; Heidi Thiese; Marybeth Hummel; Nora Alexander; Jerome Gorski; Jennifer Kussmann; Vandana Shashi; Krys Johnson; Catherine Rehder; Blake C Ballif; Lisa G Shaffer; Evan E Eichler
Journal:  Nat Genet       Date:  2011-08-14       Impact factor: 38.330

Review 7.  Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.

Authors:  Valentina P Capone; William Morello; Francesca Taroni; Giovanni Montini
Journal:  Int J Mol Sci       Date:  2017-04-11       Impact factor: 5.923

8.  Copy-number disorders are a common cause of congenital kidney malformations.

Authors:  Simone Sanna-Cherchi; Krzysztof Kiryluk; Katelyn E Burgess; Monica Bodria; Matthew G Sampson; Dexter Hadley; Shannon N Nees; Miguel Verbitsky; Brittany J Perry; Roel Sterken; Vladimir J Lozanovski; Anna Materna-Kiryluk; Cristina Barlassina; Akshata Kini; Valentina Corbani; Alba Carrea; Danio Somenzi; Corrado Murtas; Nadica Ristoska-Bojkovska; Claudia Izzi; Beatrice Bianco; Marcin Zaniew; Hana Flogelova; Patricia L Weng; Nilgun Kacak; Stefania Giberti; Maddalena Gigante; Adela Arapovic; Kristina Drnasin; Gianluca Caridi; Simona Curioni; Franca Allegri; Anita Ammenti; Stefania Ferretti; Vinicio Goj; Luca Bernardo; Vaidehi Jobanputra; Wendy K Chung; Richard P Lifton; Stephan Sanders; Matthew State; Lorraine N Clark; Marijan Saraga; Sandosh Padmanabhan; Anna F Dominiczak; Tatiana Foroud; Loreto Gesualdo; Zoran Gucev; Landino Allegri; Anna Latos-Bielenska; Daniele Cusi; Francesco Scolari; Velibor Tasic; Hakon Hakonarson; Gian Marco Ghiggeri; Ali G Gharavi
Journal:  Am J Hum Genet       Date:  2012-11-15       Impact factor: 11.025

9.  Global increases in both common and rare copy number load associated with autism.

Authors:  Santhosh Girirajan; Rebecca L Johnson; Flora Tassone; Jorune Balciuniene; Neerja Katiyar; Keolu Fox; Carl Baker; Abhinaya Srikanth; Kian Hui Yeoh; Su Jen Khoo; Therese B Nauth; Robin Hansen; Marylyn Ritchie; Irva Hertz-Picciotto; Evan E Eichler; Isaac N Pessah; Scott B Selleck
Journal:  Hum Mol Genet       Date:  2013-03-27       Impact factor: 6.150
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.