搜索页_Dysmorphism

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1.Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

作者：Frederike Leonie Harms¹ ; ²³ ; Katta M. Girisha² ; ²³ ; Andrew A. Hardigan³ ; ⁴ ; ²³ ; Fanny Kortü ; m¹ ; Anju Shukla² ; Malik Alawi⁵ ; ⁶ ; ⁷ ; Ashwin Dalal⁸ ; Lauren Brady⁹ ; Mark Tarnopolsky⁹ ; Lynne M. Bird¹⁰ ; ¹¹ ; Sophia Ceulemans¹¹ ; Martina Bebin¹² ; Kevin M. Bowling³ ; Susan M. Hiatt³ ; Edward J. Lose¹³ ; Michelle Primiano¹⁴ ; Wendy K. Chung¹⁴ ; Jane Juusola¹⁵ ; Zeynep C. Akdemir¹⁶ ; Matthew Bainbridge¹⁷ ; Wu-Lin Charng¹⁶ ; Margaret Drummond-Borg¹⁸ ; Mohammad K. Eldomery¹⁶ ; Ayman W. El-Hattab¹⁹ ; Mohammed A.M. Saleh²⁰ ; Sté ; phane Bé ; zieau²¹ ; Benjamin Cogné ; ²¹ ; Bertrand Isidor²¹ ; ²² ; Sé ; bastien Kü ; ry²¹ ; James R. Lupski¹⁶ ; Richard M. Myers³ ; Gregory M. Cooper³ ; ^{gcooper@hudsonalpha.org} ; Kerstin Kutsche¹ ; ^{kkutsche@uke.de}

关键词：EBF3 ; transcription factor ; intellectual disability ; developmental delay ; de novo mutation ; gene regulation

刊名：The American Journal of Human Genetics

出版年：2017

2.7p22.1 microduplication syndrome: Refinement of the critical region

作者：Luisa Ronzoni^a ; Francesca Sofia Grassi^a ; Lidia Pezzani^a ; Arianna Tucci^a ; Marco Baccarin^b ; Susanna Esposito^a ; Donatella Milani^a ; ^{donatella.milani@policlinico.mi.it}

关键词：7p22.1 microduplication ; Renal anomalies ; ACTB gene

刊名：European Journal of Medical Genetics

出版年：2017

3.Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

作者：Kezhi Yan¹ ; ¹⁷ ; Justine Rousseau² ; ¹⁷ ; Rebecca Okashah Littlejohn³ ; Courtney Kiss⁴ ; Anna Lehman⁵ ; Jill A. Rosenfeld⁶ ; Constance T.R. Stumpel⁷ ; Alexander P.A. Stegmann⁷ ; Laurie Robak⁶ ; Fernando Scaglia⁶ ; Thi Tuyet Mai Nguyen² ; He Fu² ; Norbert F. Ajeawung² ; Maria Vittoria Camurri² ; Lin Li¹ ; Alice Gardham⁸ ; Bianca Panis⁹ ; Mohammed Almannai⁶ ; Maria J. Guillen Sacoto¹⁰ ; Berivan Baskin¹⁰ ; Claudia Ruivenkamp¹¹ ; Fan Xia⁶ ; Weimin Bi⁶ ; DDD Study¹²

关键词：developmental disorder ; intellectual disability ; epigenetic regulator ; bromodomain ; BRPF2 ; PHD finger ; PWWP domain ; PZP domain ; histone acetylation

刊名：The American Journal of Human Genetics

出版年：2017

4.De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

作者：Hannah Sleven¹ ; ²⁰ ; Seth J. Welsh² ; ²⁰ ; Jing Yu¹ ; Mair E.A. Churchill² ; ³ ; Caroline F. Wright⁴ ; Alex Henderson⁵ ; Rita Horvath⁶ ; Julia Rankin⁷ ; Julie Vogt⁸ ; Alex Magee⁹ ; Vivienne McConnell⁹ ; Andrew Green¹⁰ ; ¹¹ ; Mary D. King¹² ; ¹³ ; Helen Cox⁸ ; Linlea Armstrong¹⁴ ; Anna Lehman¹⁴ ; Tanya N. Nelson¹⁵ ; ¹⁶ ; Deciphering Developmental Disorders study⁴

刊名：The American Journal of Human Genetics

出版年：2017

5.Before and after - Nutritional transformation of dysmorphism in a case of Costello syndrome

作者：Annie T.G. Chiu^a ; Lixing Zhu^b ; Gary T.K. Mok^a ; Gordon K.C. Leung^a ; C.B. Chow^a ; ^b ; Brian H.Y. Chung^a ; ^b ; ^{bhychung@hku.hk" class="auth_mail" title="E-mail the corresponding author}

关键词：Costello syndrome ; Dysmorphism ; Nutritional status ; Failure to thrive

刊名：European Journal of Medical Genetics

出版年：2016

6.Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement

作者：Luigi Laino^a ; ^{luigi.laino@uniroma1.it" class="auth_mail" title="E-mail the corresponding author} ; Irene Bottillo^a ; Caterina Piedimonte^b ; Laura Bernardini^c ; Barbara Torres^c ; Barbara Grammatico^a ; Simone Bargiacchi^a ; Claudia Mulargia^a ; Mauro Calvani^d ; Francesco Cardona^b ; Marco Castori^a ; Paola Grammatico^a

关键词：Duplication ; Facial dysmorphism ; Intragenic ; IL1RAPL1 ; X-linked intellectual disability

刊名：European Journal of Paediatric Neurology

出版年：2016

7.Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

作者：J.A. Avina Fierro^a ; ^{avinafie@megared.net.mx" class="auth_mail" title="E-mail the corresponding author} ; D.A. Hernandez Avina^b

关键词：Trigonocephaly ; Facial dysmorphism ; Balanced translocation

刊名：Egyptian Journal of Medical Human Genetics

出版年：2016

8.Abdominoscrotal hydrocele: A systematic review

作者：Alexander D. Doudt^a ; John E. Kehoe^a ; Romeo C. Ignacio^b ; Matthew S. Christman^a ; ^{Matthew.S.Christman3.mil@mail.mil" class="auth_mail" title="E-mail the corresponding author}

关键词：ASH ; abdominoscrotal hydrocele ; UDT ; undescended testicle ; TD ; testicular dysmorphism ; PPV ; patent processus vaginalis ; US ; ultrasound

刊名：Journal of Pediatric Surgery

出版年：2016

9.Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool

作者：Marjolijn C.J. Jongmans^a ; ^{marjolijn.jongmans@radboudumc.nl" class="auth_mail" title="E-mail the corresponding author} ; Jan L.C.M. Loeffen^b ; Esmé ; Waanders^a ; Peter M. Hoogerbrugge^c ; Marjolijn J.L. Ligtenberg^a ; Roland P. Kuiper^a ; Nicoline Hoogerbrugge^a

关键词：Cancer susceptibility ; Childhood cancer ; Selection tool ; Congenital anomalies ; Family history ; Dysmorphisms

刊名：European Journal of Medical Genetics

出版年：2016

10.Congenital Cataract With Facial Dysmorphism and Neuropathy: Key Clinical Features

作者：Arantxa Mosquera-Gorostidi ; MD ; ^{arantxa.mosquera.gorostidi@navarra.es" class="auth_mail" title="E-mail the corresponding author} ; Sergio Aguilera-Albesa ; PhD ; Marí ; a Eugenia Yoldi-Petri ; MD

刊名：Pediatric Neurology

出版年：2016

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