Bai-Lin Wu

Bai-Lin Wu

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Bai-Lin Wu

Bai-Lin Wu

Publications by authors named "Bai-Lin Wu"

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Developing a one-step triplet-repeat primed PCR assay for diagnosing myotonic dystrophy.

J Genet Genomics 2018 10 8;45(10):549-552. Epub 2018 Sep 8.

Children's Hospital of Fudan University, Shanghai 201102, China; Institute of Biomedical Sciences and Department of Pathology, Shanghai Medical College of Fudan University, Shanghai 200032, China; Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S16738527183016
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http://dx.doi.org/10.1016/j.jgg.2018.06.008DOI Listing
October 2018

Association analysis between HFM1 variations and idiopathic azoospermia or severe oligozoospermia in Chinese Men.

Sci China Life Sci 2017 03 24;60(3):315-318. Epub 2016 Nov 24.

Clinical College of PLA Affiliated Anhui Medical University, Hefei, 230031, China.

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http://link.springer.com/10.1007/s11427-016-0274-9
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http://dx.doi.org/10.1007/s11427-016-0274-9DOI Listing
March 2017

Quantitative evaluation of left ventricular volume and function in middle-aged healthy chinese people with 3 Tesla MRI.

J Magn Reson Imaging 2016 11 26;44(5):1143-1150. Epub 2016 Mar 26.

Department of Medical Imaging, Second Hospital, Hebei Medical University, Hebei, China.

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http://dx.doi.org/10.1002/jmri.25243DOI Listing
November 2016

Extracellular Cl(-) regulates human SO4 (2-)/anion exchanger SLC26A1 by altering pH sensitivity of anion transport.

Pflugers Arch 2016 08 29;468(8):1311-32. Epub 2016 Apr 29.

Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, 02215, USA.

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http://dx.doi.org/10.1007/s00424-016-1823-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4956541PMC
August 2016

Parenting stress and affective symptoms in parents of autistic children.

Sci China Life Sci 2015 Oct;58(10):1036-43

Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China.

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http://link.springer.com/content/pdf/10.1007/s11427-012-4293
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http://link.springer.com/10.1007/s11427-012-4293-z
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http://dx.doi.org/10.1007/s11427-012-4293-zDOI Listing
October 2015

Genetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism.

Sci China Life Sci 2015 Oct;58(10):958-67

Children's Hospital of Fudan University, Institutes of Biomedical Science, Shanghai Medical College of Fudan University, Shanghai, 200032, China.

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http://dx.doi.org/10.1007/s11427-015-4941-1DOI Listing
October 2015

Genetic Evaluation of Copy Number Variations, Loss of Heterozygosity, and Single-Nucleotide Variant Levels in Human Embryonic Stem Cells With or Without Skewed X Chromosome Inactivation.

Stem Cells Dev 2015 Aug 26;24(15):1779-92. Epub 2015 May 26.

1 Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory for Reproduction and Genetics of Guangdong Higher Education Institutes, Third Affiliated Hospital of Guangzhou Medical University , Guangzhou, People's Republic of China .

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http://dx.doi.org/10.1089/scd.2014.0463DOI Listing
August 2015

Congenital chloride-losing diarrhea in a Mexican child with the novel homozygous SLC26A3 mutation G393W.

Front Physiol 2015 23;6:179. Epub 2015 Jun 23.

Renal Division, Beth Israel Deaconess Medical Center Boston, MA, USA ; Harvard Digestive Diseases Center, Harvard Medical School Boston, MA, USA ; Department of Medicine, Harvard Medical School Boston, MA, USA.

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http://dx.doi.org/10.3389/fphys.2015.00179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4477073PMC
July 2015

Autistic children exhibit decreased levels of essential Fatty acids in red blood cells.

Int J Mol Sci 2015 May 4;16(5):10061-76. Epub 2015 May 4.

Laboratory of Lipid Medicine and Technology, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02129, USA.

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http://dx.doi.org/10.3390/ijms160510061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4463632PMC
May 2015

Analysis of CGG repeats in FMR1 in Chinese women with idiopathic premature ovarian failure.

Reprod Biomed Online 2014 Sep 15;29(3):382-7. Epub 2014 May 15.

State Key Laboratory of Reproductive Medicine, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing 210029, China. Electronic address:

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http://dx.doi.org/10.1016/j.rbmo.2014.05.004DOI Listing
September 2014

Somatic mutations in cerebral cortical malformations.

N Engl J Med 2014 Aug;371(8):733-43

From the Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), and the Departments of Laboratory Medicine (J.W., Y.S., B.L.W.) and Neurology (M.S., A.P.), Boston Children's Hospital, the Departments of Pediatrics (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), Neurology (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W., M.S., A.P.), and Pathology (Y.S., B.L.W.), Harvard Medical School, the Department of Neurology, Beth Israel Deaconess Medical Center (B.S.C.), and the Department of Neurology, Massachusetts General Hospital (T.W.Y.) - all in Boston; the Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore (S.S.J.); the Department of Genome Sciences, University of Washington, Seattle (M.K., M.B., D.A.N., J.S.); the Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai (J.W., Y.S.); the Division of Neurology, Department of Pediatrics, Hacettepe University School of Medicine, Sihhiye, Ankara, Turkey (M.T.); the Neurogenetics Unit, Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery (D.A., E.A.) and Department of Human Genetics (E.A.), McGill University, Montreal; the Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels (B.D.); the Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy (E.P., R.G.); the Department of Medicine, University of Melbourne, Austin Health, Heidelberg (I.E.S., S.F.B.), Department of Paediatrics, Royal Children's Hospital, University of Melbourne, and the Florey Institute of Neuroscience and Mental Health, Melbourne (I.E.S.), and the Department of Neurology, Royal Children's Hospital, Murdoch Children'

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http://dx.doi.org/10.1056/NEJMoa1314432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274952PMC
August 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

Mutations in HFM1 in recessive primary ovarian insufficiency.

N Engl J Med 2014 Mar;370(10):972-4

Boston Children's Hospital, Boston, MA.

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http://dx.doi.org/10.1056/NEJMc1310150DOI Listing
March 2014

SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.

Am J Med Genet B Neuropsychiatr Genet 2013 Dec 6;162B(8):832-40. Epub 2013 Sep 6.

Institutes of Biomedical Sciences, Children's Hospital and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China; Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.b.32187DOI Listing
December 2013

Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities.

Genet Med 2013 Sep 4;15(9):706-12. Epub 2013 Apr 4.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1038/gim.2013.36DOI Listing
September 2013

Reply to Dr. Jeffrey Brent.

Authors:
Bai-Lin Wu Bo Song

Neurotoxicology 2013 Jul 24;37:220. Epub 2013 May 24.

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http://dx.doi.org/10.1016/j.neuro.2013.05.013DOI Listing
July 2013

Reply to drs. John andrew tomenson and clive campbell.

Authors:
Bai-Lin Wu Bo Song

Neurotoxicology 2013 May 27;36:105. Epub 2013 Feb 27.

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http://dx.doi.org/10.1016/j.neuro.2013.02.011DOI Listing
May 2013

Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics.

Clin Chem 2012 Nov 11;58(11):1507-9. Epub 2012 Oct 11.

Shanghai Children's Medical Center, Jiaotong University School of Medicine, Shanghai, China.

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http://dx.doi.org/10.1373/clinchem.2012.193128DOI Listing
November 2012

Identification of novel rare mutations of DACT1 in human neural tube defects.

Hum Mutat 2012 Oct 19;33(10):1450-5. Epub 2012 Jun 19.

The State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, P.R. China.

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http://dx.doi.org/10.1002/humu.22121DOI Listing
October 2012

High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability.

PLoS One 2012 11;7(4):e34739. Epub 2012 Apr 11.

The State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0034739PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324537PMC
August 2012

Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity status.

Curr Protoc Hum Genet 2012 Jul;Chapter 8:Unit8.12

Department of Laboratory Medicine, Division of Genetics, Children's Hospital Boston, and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/0471142905.hg0812s74DOI Listing
July 2012

[The effects of low pre-pregnant lead exposure level on maternal bone turnover during gestation and lactation in mice].

Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi 2012 Jul;30(7):493-6

Department of Occupational and Environmental Health, Hebei Medical University, Shijiazhuang, Hebei, China.

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July 2012

Standardization and diversification of copy number microarray testing for clinical diagnostics--implications of the cross-platform/algorithm study on clinical diagnostic chromosomal microarray analysis.

Clin Chem 2011 Oct;57(10):1354-6

Shanghai Children's Medical Center and 2 Shanghai Jiaotong University School of Medicine, Shanghai, China.

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http://dx.doi.org/10.1373/clinchem.2011.171769DOI Listing
October 2011

Age- and gender-dependent obesity in individuals with 16p11.2 deletion.

J Genet Genomics 2011 Sep 17;38(9):403-9. Epub 2011 Aug 17.

Department of Laboratory Medicine, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.jgg.2011.08.003DOI Listing
September 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.

Am J Med Genet B Neuropsychiatr Genet 2011 Mar 28;156(2):225-32. Epub 2010 Dec 28.

Department of Laboratory Medicine, Children's Hospital Boston, Boston, Massachusetts, USA.

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http://doi.wiley.com/10.1002/ajmg.b.31147
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http://dx.doi.org/10.1002/ajmg.b.31147DOI Listing
March 2011

Cognitive and behavioral characterization of 16p11.2 deletion syndrome.

J Dev Behav Pediatr 2010 Oct;31(8):649-57

Division of Developmental Medicine, Children's Hospital Boston, Boston, MA 02115, USA.

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https://insights.ovid.com/crossref?an=00004703-201010000-000
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http://dx.doi.org/10.1097/DBP.0b013e3181ea50edDOI Listing
October 2010

Global DNA hypomethylation is associated with NTD-affected pregnancy: A case-control study.

Birth Defects Res A Clin Mol Teratol 2010 Jul;88(7):575-81

Department of Molecular Immunology, Capital Institute of Pediatrics, Beijing, China.

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http://dx.doi.org/10.1002/bdra.20670DOI Listing
July 2010

Large-scale medical resequencing for X-linked mental retardation.

Clin Chem 2010 Mar 29;56(3):339-41. Epub 2009 Dec 29.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1373/clinchem.2009.135020DOI Listing
March 2010

Familial dilated cardiomyopathy secondary to dystrophin splice site mutation.

J Card Fail 2010 Mar;16(3):194-9

Department of Cardiology, Children's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.cardfail.2009.11.009DOI Listing
March 2010

Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.

Arch Otolaryngol Head Neck Surg 2010 Jan;136(1):81-7

Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, 300 Longwood Ave, LO-367, Boston, MA 02115, USA.

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http://dx.doi.org/10.1001/archoto.2009.202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528189PMC
January 2010

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

Physiol Genomics 2009 Aug 9;38(3):281-90. Epub 2009 Jun 9.

Department of Otorhinolaryngology Head and Neck Surgery and Genetic Testing Center for Deafness, PLA General Hospital, Beijing, People's Republic of China.

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http://dx.doi.org/10.1152/physiolgenomics.00047.2009DOI Listing
August 2009

[Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients, carriers, and prenatal diagnosis].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009 Jun;26(3):318-22

Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu, 215002 PR China.

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2009.03.018DOI Listing
June 2009

Microarray-based genomic DNA profiling technologies in clinical molecular diagnostics.

Clin Chem 2009 Apr 20;55(4):659-69. Epub 2009 Feb 20.

Children's Hospital Boston, Boston, MA 02115, USA.

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http://dx.doi.org/10.1373/clinchem.2008.112821DOI Listing
April 2009

Genetic testing for developmental delay: keep searching for an answer.

Clin Chem 2009 Apr;55(4):827-30; discussion 830-2

Department of Laboratory Medicine, Division of Genetics, Neurolinguistics Clinic/Behavioral Neurology in Department of Neurology, Children's Hospital Boston, Boston, MA 02115, USA.

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http://dx.doi.org/10.1373/clinchem.2008.119438DOI Listing
April 2009

Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome.

J Genet Genomics 2009 Apr;36(4):257-65

Children's Hospital Boston, Harvard University, Boston, MA 02115, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S167385270860113
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http://dx.doi.org/10.1016/S1673-8527(08)60113-7DOI Listing
April 2009

SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss.

Genet Med 2008 Aug;10(8):586-92

Department of Otolaryngology and Genetic Testing Center for Deafness, Chinese PLA General Hospital, Beijing, People's Republic of China.

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http://dx.doi.org/10.1097GIM.0b013e31817d2ef1DOI Listing
August 2008

Response of motor complications in Cockayne syndrome to carbidopa-levodopa.

Arch Neurol 2008 Aug;65(8):1117-21

Division ofGenetics, Children's Hospital Boston, Boston, MA 02115, USA.

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http://dx.doi.org/10.1001/archneur.65.8.1117DOI Listing
August 2008

Oligonucleotide microarrays for clinical diagnosis of copy number variation.

Curr Protoc Hum Genet 2008 Jul;Chapter 8:Unit 8.12

Department of Laboratory Medicine, Children's Hospital Boston, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/0471142905.hg0812s58DOI Listing
July 2008

Atypical cases of Angelman syndrome.

Am J Med Genet A 2006 Nov;140(21):2361-4

Division of Genetics and Metabolism, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.31481DOI Listing
November 2006

[Diagnostic methods and clinic application for mtDNA A1555G and GJB2 and SLC26A4 genes in deaf patients].

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2005 Oct;40(10):769-73

Department of Otorhinolaryngology Head & Neck Surgery, Otorhinolaryngology Institute, Genetic Testing Center for Deafness, General Hospital of Chinese People's Liberation Army, Beijing 100853, China.

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October 2005

Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification.

Beijing Da Xue Xue Bao Yi Xue Ban 2005 Feb;37(1):55-7

Department of Laboratory Medicine, Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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February 2005

Effectiveness of multiplex ligation-dependent probe amplification assay used for detecting deletion of Prader-Willi syndrome.

Beijing Da Xue Xue Bao Yi Xue Ban 2005 Feb;37(1):64-7

Department of Laboratory Medicine, Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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February 2005

Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy.

Genet Test 2003 ;7(4):277-81

Department of Pathology, Harvard Medical School, and Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1089/109065703322783626DOI Listing
October 2004

High intensity ras signaling induces premature senescence by activating p38 pathway in primary human fibroblasts.

J Biol Chem 2004 Jan 29;279(2):1050-9. Epub 2003 Oct 29.

Department of Molecular Biology, The Scripps Research Institute, La Jolla, California 91037, USA.

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http://dx.doi.org/10.1074/jbc.M308644200DOI Listing
January 2004

Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness.

Am J Med Genet A 2003 Aug;121A(2):102-8

Department of Laboratory Medicine, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1002/ajmg.a.20210DOI Listing
August 2003

Intracytoplasmic sperm injection may increase the risk of imprinting defects.

Am J Hum Genet 2002 Jul 8;71(1):162-4. Epub 2002 May 8.

Children's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1086/341096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC384973PMC
July 2002