换一批Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
第一作者：
P A,Mulder
第一单位：
Autism Team Northern-Netherlands, Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.
作者：
P A,Mulder [1]
;
I D C,van Balkom [2]
;
A M,Landlust [1]
;
M,Priolo [3]
;
L A,Menke [4]
;
I H,Acero [5]
;
F S,Alkuraya [6]
;
P,Arias [7]
;
L,Bernardini [8]
;
E K,Bijlsma [9]
;
T,Cole [10]
;
C,Coubes [11]
;
I,Dapia [7]
;
S,Davies [12]
;
N,Di Donato [13]
;
N H,Elcioglu [14]
;
J A,Fahrner [15]
;
A,Foster [16]
;
N G,González [17]
;
I,Huber [18]
;
M,Iascone [19]
;
A-S,Kaiser [20]
;
A,Kamath [12]
;
K,Kooblall [21]
;
P,Lapunzina [7]
;
J,Liebelt [22]
;
S A,Lynch [23]
;
S M,Maas [24]
;
C,Mammì [3]
;
I B,Mathijssen [24]
;
S,McKee [25]
;
G M,Mirzaa [26]
;
T,Montgomery [27]
;
D,Neubauer [28]
;
T E,Neumann [29]
;
L,Pintomalli [3]
;
M A,Pisanti [30]
;
A S,Plomp [24]
;
S,Price [31]
;
C,Salter [32]
;
F,Santos-Simarro [7]
;
P,Sarda [11]
;
D,Schanze [28]
;
M,Segovia [33]
;
C,Shaw-Smith [34]
;
S,Smithson [35]
;
M,Suri [36]
;
K,Tatton-Brown [37]
;
J,Tenorio [7]
;
R V,Thakker [21]
;
R M,Valdez [38]
;
A,Van Haeringen [9]
;
J M,Van Hagen [39]
;
M,Zenker [28]
;
M,Zollino [40]
;
W W,Dunn [41]
;
S,Piening [2]
;
R C,Hennekam [42]
作者单位：
Autism Team Northern-Netherlands, Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.
[1]
Autism Team Northern-Netherlands, Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.;Rob Giel Research Centre, Department of Psychiatry, University Medical Center Groningen, Groningen, Netherlands.
[2]
Unità Operativa di Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
[3]
Department of Paediatrics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
[4]
Genetics Unit, Hospital Universitario Central de Asturias, Oviedo, Spain.
[5]
Saudi Human Genome Project, King Abdulaziz City for Science and Technology, and Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
[6]
Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
[7]
Cytogenetics Unit, Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Italy.
[8]
Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.
[9]
Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
[10]
Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.
[11]
Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
[12]
Institute for Clinical Genetics, TU Dresden, Dresden, Germany.
[13]
Department of Pediatric Genetics, Marmara University Medical School, Istanbul and Eastern Mediterranean University, Mersin, Turkey.
[14]
McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
[15]
Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
[16]
Unit Hospital Universitario Central de Asturias, Oviedo, Spain.
[17]
Sørland Hospital, Kristiansand, Norway.
[18]
Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy.
[19]
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
[20]
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
[21]
South Australian Clinical Genetics Services, Women's and Children's Hospital, North Adelaide, Australia.
[22]
UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, and Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland.
[23]
Department of Clinical Genetics, Academic Medical Center, Amsterdam, Netherlands.
[24]
Northern Ireland Regional Genetics Service, Belfast Health and Social Care Trust, Belfast, UK.
[25]
Center for Integrative Brain Research, Seattle Children's Research Institute, and Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA, USA.
[26]
Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
[27]
Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
[28]
Mitteldeutscher Praxisverbund Humangenetik, Halle, Germany.
[29]
Medical Genetic and Laboratory Unit, "Antonio Cardarelli" Hospital, Naples, Italy.
[30]
Department of Clinical Genetics, Northampton General Hospital NHS Trust, Northampton, UK.
[31]
Wessex Clinical Genetics Service, Princess Ann Hospital, Southampton, UK.
[32]
CENAGEM, Centro Nacional de Genética, Buenos Aires, Argentina.
[33]
Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
[34]
University Hospitals Bristol NHS Trust, Bristol, UK.
[35]
Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
[36]
Division of Genetics and Epidemiology, Institute of Cancer Research, London and South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, London, UK.
[37]
Genetics Unit, Hospital Militar Central "Cirujano Mayor Dr. Cosme Argerich", Buenos Aires, Argentina.
[38]
Department of Clinical Genetics, VU University Medical Centre, Amsterdam, Netherlands.
[39]
Department of Laboratory Medicine, Institute of Medical Genetics, Catholic University, Rome, Italy.
[40]
Department of Occupational Therapy Education, School of Health Professions, University of Missouri, Columbia, MO, USA.
[41]
Autism Team Northern-Netherlands, Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.;Department of Paediatrics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
[42]
医学主题词
畸形, 多发性(Abnormalities, Multiple);适应, 心理学(Adaptation, Psychological);青少年(Adolescent);成年人(Adult);骨疾病, 发育性(Bone Diseases, Developmental);儿童(Child);儿童, 学龄前(Child, Preschool);共病现象(Comorbidity);颅面骨畸形(Craniofacial Abnormalities);横断面研究(Cross-Sectional Studies);女(雌)性(Female);随访研究(Follow-Up Studies);人类(Humans);男(雄)性(Male);精神障碍(Mental Disorders);荷兰(Netherlands);表型(Phenotype);透明隔-视神经发育不良(Septo-Optic Dysplasia);言语障碍(Speech Disorders);综合征(Syndrome);青年人(Young Adult)
DOI
10.1111/jir.12787
PMID
33034087
发布时间
2022-03-29
- 浏览6
Journal of intellectual disability research
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