换一批
换一批A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
作者：
Sandra,Jansen [1]
;
Alexander,Hoischen [2]
;
Bradley P,Coe [3]
;
Gemma L,Carvill [4]
;
Hilde,Van Esch [5]
;
Daniëlle G M,Bosch [6]
;
Ulla A,Andersen [7]
;
Carl,Baker [3]
;
Marijke,Bauters [5]
;
Raphael A,Bernier [8]
;
Bregje W,van Bon [1]
;
Hedi L,Claahsen-van der Grinten [9]
;
Jozef,Gecz [10]
;
Christian,Gilissen [1]
;
Lucia,Grillo [11]
;
Anna,Hackett [12]
;
Tjitske,Kleefstra [1]
;
David,Koolen [1]
;
Malin,Kvarnung [13]
;
Martin J,Larsen [14]
;
Carlo,Marcelis [1]
;
Fiona,McKenzie [15]
;
Marie-Lorraine,Monin [16]
;
Caroline,Nava [17]
;
Janneke H,Schuurs-Hoeijmakers [1]
;
Rolph,Pfundt [1]
;
Marloes,Steehouwer [1]
;
Servi J C,Stevens [18]
;
Connie T,Stumpel [18]
;
Fleur,Vansenne [19]
;
Mirella,Vinci [11]
;
Maartje,van de Vorst [1]
;
Petra de,Vries [1]
;
Kali,Witherspoon [3]
;
Joris A,Veltman [20]
;
Han G,Brunner [21]
;
Heather C,Mefford [22]
;
Corrado,Romano [23]
;
Lisenka E L M,Vissers [1]
;
Evan E,Eichler [24]
;
Bert B A,de Vries [25]
作者单位：
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
[1]
Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.;Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.
[2]
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.
[3]
Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
[4]
Centre for Human Genetics, KU Leuven, Herestraat 49, B-3000, Leuven, Belgium.
[5]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.;Currently working at the Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.
[6]
Department of Psychiatry, Odense, Institute of clinical research, University of Southern Denmark, J.B. Winsløwsvej 18, 5000, Odense C, Denmark.
[7]
Department of Psychiatry, University of Washington, Seattle, WA, USA.
[8]
Department of Paediatric Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
[9]
Adelaide Medical School and the Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia.;South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.
[10]
Laboratory of Medical Genetics, Oasi Research Institute (IRCCS), Via Conte Ruggero, 73, Postal Code 94018, Troina, Italy.
[11]
The GOLD service Hunter Genetics, University of Newcastle, Newcastle, NSW, Australia.
[12]
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, SE-171 76, Stockholm, Sweden.;Department of Clinical Genetics, Karolinska University Hospital, 171 77, Stockholm, Sweden.
[13]
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
[14]
School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA, Australia.;Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.
[15]
Department of Genetics, Pitié-Salpêtrière University Hospital, 47-83 Boulevard de l'Hôpital, 75651, Paris Cedex 13, France.
[16]
Département de Génétique, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France.;INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.
[17]
Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, P. Debyelaan 25, 6229 HX, Maastricht, The Netherlands.
[18]
Department of Genetics, University of Groningen, University Medical Center Groningen, P.O. Box 30.001, 9700 RB, Groningen, The Netherlands.
[19]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.;Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, United Kingdom.
[20]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.;Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, P. Debyelaan 25, 6229 HX, Maastricht, The Netherlands.
[21]
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, United States.
[22]
Pediatrics and Medical Genetics, Oasi Research Institute (IRCCS), Via Conte Ruggero, 73, Postal Code 94018, Troina, Italy.
[23]
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.;Howard Hughes Medical Institute, University of Washington, Seattle, WA, 98195, USA.
[24]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. bert.devries@radboudumc.nl.
[25]
主题词
青少年(Adolescent);成年人(Adult);儿童(Child);女(雌)性(Female);基因检测(Genetic Testing);基因型(Genotype);单倍剂量不足(Haploinsufficiency);人类(Humans);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);男(雄)性(Male);超重(Overweight);结果可重复性(Reproducibility of Results);序列分析, DNA(Sequence Analysis, DNA);综合征(Syndrome)
DOI
10.1038/s41431-017-0039-5
PMID
29209020
发布时间
2024-09-22
- 浏览12
European journal of human genetics
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