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Literature DB >> 17847015

Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.

Sabine Uhrig, Dietmar Schlembach, Julie Waldispuehl-Geigl, Werner Schaffer, Jochen Geigl, Eva Klopocki, Stefan Mundlos, Michael R Speicher.

Abstract

Entities: Disease

Mesh：

Year: 2007 PMID： 17847015 PMCID： PMC2227939 DOI： 10.1086/521338

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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23 in total

1. Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin.

Authors: M Ballmaier; H Schulze; G Strauss; K Cherkaoui; N Wittner; S Lynen; S Wolters; J Bogenberger; K Welte
Journal: Blood Date: 1997-07-15 Impact factor: 22.113

2. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Authors: Lisenka E L M Vissers; Conny M A van Ravenswaaij; Ronald Admiraal; Jane A Hurst; Bert B A de Vries; Irene M Janssen; Walter A van der Vliet; Erik H L P G Huys; Pieter J de Jong; Ben C J Hamel; Eric F P M Schoenmakers; Han G Brunner; Joris A Veltman; Ad Geurts van Kessel
Journal: Nat Genet Date: 2004-08-08 Impact factor: 38.330

3. Percutaneous umbilical blood sampling: results from a multicenter collaborative registry. The Western Collaborative Perinatal Group.

Authors: D E Hickok; M Mills
Journal: Am J Obstet Gynecol Date: 1992-06 Impact factor: 8.661

4. Thrombocytopenia and absent radius (TAR) syndrome.

Authors: J G Hall
Journal: J Med Genet Date: 1987-02 Impact factor: 6.318

5. Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome.

Authors: P Labrune; J C Pons; M Khalil; V Mirlesse; M C Imbert; M Odièvre; F Daffos; G Tchernia; R Frydman
Journal: Prenat Diagn Date: 1993-06 Impact factor: 3.050

6. Prenatal diagnosis of thrombocytopenia-absent-radius (TAR) syndrome.

Authors: T Tongsong; S Sirichotiyakul; P Chanprapaph
Journal: Ultrasound Obstet Gynecol Date: 2000-03 Impact factor: 7.299

7. Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery.

Authors: S D Shelton; K Paulyson; H H Kay
Journal: Prenat Diagn Date: 1999-01 Impact factor: 3.050

8. Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

Authors: Antje Brockschmidt; Unda Todt; Soojin Ryu; Alexander Hoischen; Christina Landwehr; Stefanie Birnbaum; Wilhelm Frenck; Bernhard Radlwimmer; Peter Lichter; Hartmut Engels; Wolfgang Driever; Christian Kubisch; Ruthild G Weber
Journal: Hum Mol Genet Date: 2007-05-03 Impact factor: 6.150

Review 9. Thrombocytopenia with absent radius (TAR).

Authors: J G Hall; J Levin; J P Kuhn; E J Ottenheimer; K A van Berkum; V A McKusick
Journal: Medicine (Baltimore) Date: 1969-11 Impact factor: 1.889

10. Prenatal diagnosis of thrombocytopenia-absent radius syndrome.

Authors: O Boute; S Depret-Mosser; D Vinatier; S Manouvrier; E Martin de Lassale; J P Farriaux; J C Monnier
Journal: Fetal Diagn Ther Date: 1996 May-Jun Impact factor: 2.587

4 in total

1. Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.

Authors: Jill A Rosenfeld; Ryan N Traylor; G Bradley Schaefer; Elizabeth W McPherson; Blake C Ballif; Eva Klopocki; Stefan Mundlos; Lisa G Shaffer; Arthur S Aylsworth
Journal: Eur J Hum Genet Date: 2012-02-08 Impact factor: 4.246

2. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

Authors: B W M van Bon; H C Mefford; B Menten; D A Koolen; A J Sharp; W M Nillesen; J W Innis; T J L de Ravel; C L Mercer; M Fichera; H Stewart; L E Connell; K Ounap; K Lachlan; B Castle; N Van der Aa; C van Ravenswaaij; M A Nobrega; C Serra-Juhé; I Simonic; N de Leeuw; R Pfundt; E M Bongers; C Baker; P Finnemore; S Huang; V K Maloney; J A Crolla; M van Kalmthout; M Elia; G Vandeweyer; J P Fryns; S Janssens; N Foulds; S Reitano; K Smith; S Parkel; B Loeys; C G Woods; A Oostra; F Speleman; A C Pereira; A Kurg; L Willatt; S J L Knight; J R Vermeesch; C Romano; J C Barber; G Mortier; L A Pérez-Jurado; F Kooy; H G Brunner; E E Eichler; T Kleefstra; B B A de Vries
Journal: J Med Genet Date: 2009-04-15 Impact factor: 6.318

3. A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.

Authors: Hartmut Engels; Eva Wohlleber; Alexander Zink; Juliane Hoyer; Kerstin U Ludwig; Felix F Brockschmidt; Dagmar Wieczorek; Ute Moog; Birgit Hellmann-Mersch; Ruthild G Weber; Lionel Willatt; Martina Kreiss-Nachtsheim; Helen V Firth; Anita Rauch
Journal: Eur J Hum Genet Date: 2009-05-27 Impact factor: 4.246

4. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.

Authors: Ignatia B Van den Veyver; Ankita Patel; Chad A Shaw; Amber N Pursley; Sung-Hae L Kang; Marcia J Simovich; Patricia A Ward; Sandra Darilek; Anthony Johnson; Sarah E Neill; Weimin Bi; Lisa D White; Christine M Eng; James R Lupski; Sau Wai Cheung; Arthur L Beaudet
Journal: Prenat Diagn Date: 2009-01 Impact factor: 3.050

4 in total