相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres
Miroslava Hancarova et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Expanding the phenome and variome of skeletal dysplasia
Sateesh Maddirevula et al.
GENETICS IN MEDICINE (2018)
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails
Ariana Kariminejad et al.
JOURNAL OF HUMAN GENETICS (2017)
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Jennifer E. Posey et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome
Nicola Dikow et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
David A. Stevenson et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Update on the Toriello-Carey syndrome
Helga V. Toriello et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1
Anne B. Kroigard et al.
CLINICAL DYSMORPHOLOGY (2016)
A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency
Mara Giordano et al.
Molecular Cytogenetics (2016)
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes
Isabelle Thiffault et al.
BMC MEDICAL GENETICS (2015)
The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles
Orion J. Buske et al.
HUMAN MUTATION (2015)
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome
Jill E. Urquhart et al.
JOURNAL OF HUMAN GENETICS (2015)
A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child
Makanko Komara et al.
JOURNAL OF MOLECULAR NEUROSCIENCE (2015)
Primordial dwarfism: an update
Fowzan S. Alkuraya
CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY (2015)
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population
Sarah M. Al-Qattan et al.
GENETICS IN MEDICINE (2015)
Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype
Sarah L. Sawyer et al.
CANCER DISCOVERY (2015)
A Newly Recognized 13q12.3 Microdeletion Syndrome Characterized by Intellectual Disability, Microcephaly, and Eczema/Atopic Dermatitis Encompassing the HMGB1 and KATNAL1 Genes
Deborah Bartholdi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar
S. Fahiminiya et al.
CLINICAL GENETICS (2014)
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome
Jana-Katharina Dieks et al.
EUROPEAN JOURNAL OF PEDIATRICS (2014)
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
Lina Basel-Vanagaite et al.
HUMAN GENETICS (2014)
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
Jennie E. Murray et al.
HUMAN MUTATION (2014)
Profound T-cell defects in Dubowitz syndrome
Vassilios Lougaris et al.
PEDIATRIC ALLERGY AND IMMUNOLOGY (2014)
Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders
Douglas R. Stewart et al.
PLOS ONE (2014)
Functional Analysis of a De Novo ACTB Mutation in a Patient with Atypical Baraitser-Winter Syndrome
Jennifer J. Johnston et al.
HUMAN MUTATION (2013)
Identification of the DNA Repair Defects in a Case of Dubowitz Syndrome
Jingyin Yue et al.
PLOS ONE (2013)
Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability
Muzammil Ahmad Khan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mutations in NSUN2 Cause Autosomal-Recessive Intellectual Disability
Lia Abbasi-Moheb et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
Fernando Jose Martinez et al.
JOURNAL OF MEDICAL GENETICS (2012)
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
The Difficult Nosology of Blepharophimosis-Mental Retardation Syndromes: Report on Two Siblings
Maria Lisa Dentici et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a Hyper-IgE and a Dubowitz-like syndrome
Markus Beitzke et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2011)
Left Ventricular Non-Compaction on MRI in a Patient With 22q11.2 Distal Deletion
Shobhit Madan et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
A case report of Dubowitz syndrome accompanied by congenital anal atresia
Liu Jifeng et al.
INTERNATIONAL JOURNAL OF DERMATOLOGY (2010)
A de novo paradigm for mental retardation
Lisenka E. L. M. Vissers et al.
NATURE GENETICS (2010)
Two siblings with microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
Lars Kjaersgaard Hansen et al.
CLINICAL DYSMORPHOLOGY (2009)
Combined Immunodeficiency Associated with DOCK8 Mutations
Qian Zhang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Coronary Artery Disease: A New Manifestation in Dubowitz Syndrome
J. Seeburger et al.
THORACIC AND CARDIOVASCULAR SURGEON (2009)
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome
M. J. Lyons et al.
JOURNAL OF MEDICAL GENETICS (2009)
Association between nasal polyposis, Dubowitz syndrome and hyper-IgE syndrome
Krishnamurti Matos de Araujo Sarmento et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2008)
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure
Bernd Gruhn et al.
ORPHANET JOURNAL OF RARE DISEASES (2007)
A new phenotype linked to SPG27 and refinement of the critical region on chromosome 10
Pascale Ribai et al.
JOURNAL OF NEUROLOGY (2006)
Craniocervical anomalies in Dubowitz syndrome
KR Swartz et al.
PEDIATRIC NEUROSURGERY (2003)
Familial syringomyelia: the first Japanese case and review of the literature
I Yabe et al.
CLINICAL NEUROLOGY AND NEUROSURGERY (2002)
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency
M O'Driscoll et al.
MOLECULAR CELL (2001)
Two brothers with severe developmental delay, growth retardation and unusual appearance
EG Lemire et al.
CLINICAL DYSMORPHOLOGY (2001)