作者：Qianlan Ding^a ; Xi Wu^a ; Yeling Lu^a ; Changming Chen^b ; Rui Shen^c ; Xi Zhang^c ; Zhengwen Jiang^c ; ^{zhengwenj@geneskies.com" class="auth_mail" title="E-mail the corresponding author} ; Xuefeng Wang^a ; ^{wangxuefeng6336@hotmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：HA ; haemophilia A ; F8 ; factor VIII gene ; Inv22 ; intron 22 inversion ; LD-PCR ; long-distance-PCR ; IS-PCR ; inverse shifting-PCR ; Del22 ; int22h-mediated deletion ; Dup22 ; int22h-mediated duplication ; PLP ; pre-amplification of LD-PCR ; AQ-PLP ; AccuCopy quantification combined with pre-amplification of long-distance PCR ; CNV ; copy number variation ; LOD ; limit of detection

刊名：Clinica Chimica Acta

出版年：2016

作者：Adam Klocperk^a ; ^{adam.klocperk@fnmotol.cz" class="auth_mail" title="E-mail the corresponding author} ; Ester Mejstří ; ková ; ^b ; Jana Kayserová ; ^a ; Tomá ; &scaron ; Kalina^b ; Anna &Scaron ; edivá ; ^a

关键词：B-cells ; DiGeorge ; BAFF ; Marginal zone ; Naï ; ve ; Switched

刊名：Clinical Immunology

出版年：2015

作者：Candy Sue Má ; rquez-Á ; vila^a ; ^{candymarqueza@prodigy.net.mx" class="auth_mail" title="E-mail the corresponding author} ; Alfredo Vizcaí ; no-Alarcó ; n^b ; ^{avizca34@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Constanza Garcí ; a-Delgado^c ; ^{constanzagarciadelgado@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Paulina Marí ; a Nú ; ñ ; ez-Martí ; nez^c ; ^{pau_nunez@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Francisco Flores-Ramí ; rez^c ; ^{franciscofloresramirez49@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Alejandra del Pilar Reyes-de la Rosa^c ; ^{areyesdelarosa@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Paola Mendelsberg-Fishbein^c ; ^{paola_m84@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Diana Ibarra-Grajeda^a ; ^{dig79@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Patricia Medina-Bravo^d ; ^{drapatty_75@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Norma Balderrá ; bano-Saucedo^b ; ^{balderrabano_6@yahoo.es" class="auth_mail" title="E-mail the corresponding author} ; Salvador Esteva-Solsona^d ; ^{esteva.endocrino@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Luz del Carmen Má ; rquez-Quiró ; z^c ; ^{marquezquiroz@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author} ; Arturo Flores-Cuevas^c ; ^{arturocuevas_14@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Rocí ; o Sá ; nchez-Urbina^c ; ^{rs_urbina@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author} ; Ariadna Berenice Morales-Jimé ; nez^c ; ^{ariadnamorales@ciencias.unam.mx" class="auth_mail" title="E-mail the corresponding author} ; Nayely Garibay-Nieto^d ; ^{gngaribay@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Jesú ; s Del Bosque-Garza^e ; ^{drjesusdelbosque@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Dino Pietropaolo-Cienfuegos^f ; ^{dpietro4@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Claudia Gutié ; rrez-Camacho^g ; ^{claudia.g.cam@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Leticia Garcí ; a-Morales^d ; ^{letygarcia17@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author} ; Veró ; nica Fabiola Morá ; n-Barroso^c ; ^{vfmoran@himfg.edu.mx" class="auth_mail" title="E-mail the corresponding author} ; ^{veronicafabiolamoranbarroso@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author}

关键词：VCFS ; velocardiofacial syndrome ; CHD ; congenital heart defect ; FISH ; fluorescence in situ hybridization ; MLPA ; multiplex ligation-dependent probe amplification ; aCGH ; array-based comparative genomic hybridization ; LCR ; low copy repeats ; CTD ; conotruncal defects ; TF ; Tetralogy of Fallot ; PA ; pulmonary atresia ; PS ; pulmonary stenosis ; TA ; Truncus arteriosus ; IAA ; interrupted aortic arch ; VSD ; ventricular septal defect ; AAA ; aortic arch anomalies ; GH ; growth hormone ; OSCP ; occult submucous cleft pa

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2015

作者：GianMaria Miolo ; Marina Crovatto ; Massimo Manno ; Barbara Pivetta ; Giovanni Tessitori ; Luigi Picci

关键词：CFTR gene ; 852del22 mutation ; line probe assay

刊名：Fertility and Sterility

出版年：2011

作者：Meng-Luen Lee^a ; ^b ; ^{ferdielee@yahoo.com} ; Ming Chen^b ; ^c ; Lon-Yen Tsao^d ; Han-Yao Chiu^e ; Ing-Sh Chiu^f ; Albert D. Yang^g ; Pei-Ling Tsai^g

关键词：Vascular ring ; Kommerell's diverticulum ; Stridor ; Wheezing ; Del22q11.2 syndrome

刊名：Cardiovascular Pathology

出版年：2011

作者：Marianne B.M. van den Bree ; Gregory Miller ; Elizabeth Mansell ; Anita Thapar ; Frances Flinter ; Michael J. Owen

关键词：22q11.2 deletion syndrome ; 22q11.2DS ; Velo-Cardio-Facial syndrome ; Parental awareness ; Physical manifestations ; Psychiatric manifestations

刊名：European Journal of Medical Genetics

出版年：2013

作者：David J. Margolis ; MD ; PhD^a ; ^b ; ^&lowast ; ; ^{margo@upenn.edu" class="auth_mail} ; Jayanta Gupta ; MD ; PhD^a ; ^&lowast ; ; Andrea J. Apter ; MD ; MSc^c ; Tapan Ganguly ; PhD^d ; Ole Hoffstad ; MA^a ; Maryte Papadopoulos ; MBE^a ; Tim R. Rebbeck ; PhD^a ; Nandita Mitra ; PhD^a

关键词：Atopic dermatitis ; filaggrin ; epidemiology ; genetic epidemiology ; atopy

刊名：Journal of Allergy and Clinical Immunology

出版年：March, 2014

作者：Meng-Luen Lee ; Ming Chen ; Albert D. Yang ; Ing-Sh Chiu

关键词：Multidetector computer tomography ; Mirror-image ; Type D interrupted aortic arch ; Conotruncal ventricular septal defect ; Biventricular Norwood procedure ; Fluorescence in situ hybridization ; del22q11.2 syndrome

刊名：International Journal of Cardiology

出版年：2010

作者：Guillermo Lay-Son^a ; ^b ; ^c ; Mirta Palomares^c ; ^d ; M. Luisa Guzman^a ; Marcos Vasquez^a ; Alonso Puga^a ; Gabriela M. Repetto^a ; ^c ; ^{grepetto@udd.cl}

关键词：DiGeorge syndrome ; Velocardiofacial syndrome ; Palate ; Cleft palate ; Velopharyngeal insufficiency ; 22q11 deletion

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2012

作者：J. Guerrero Ferná ; ndez^a ; ^{jguerrerof@yahoo.es} ; C. Labrandero de Lera^b ; I. Gonzá ; lez Casado^a ; R. Gracia Bouthelier^a

关键词：Deleció ; n 22q11.2 ; Sí ; ndrome de DiGeorge ; Diabetes mellitus tipo 1 ; Facies asimé ; trica con el llanto ; Manifestaciones endocrinoló ; gicas

刊名：Anales de Pediatr¨ªa

出版年：2011