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AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Rivista
Codice:
E190195
ISSN:
1552-4825
Dati Generali
Dati Generali
Pubblicazioni (63)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
3D facial morphometry in Italian patients affected by Aicardi syndrome
Articolo
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.
Articolo
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.
Articolo
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.
Articolo
A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy
Articolo
A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.
Articolo
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes
Articolo
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events
Articolo
A patient with duplication (7)(p22.1pter) characterized by array-CGH
Articolo
A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeltion syndromes.
Articolo
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome
Articolo
Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients
Articolo
Beneficial effect of gabapentin in two children with Noonan syndrome and early-onset neuropathic pain
Articolo
Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations inADAR1(AGS6)
Articolo
Calcifying leukoencephalopathies: new overlapping phenotypes
Articolo
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature
Articolo
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
Articolo
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Articolo
Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5)
Articolo
Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.
Articolo
Cognitive, Adaptive, and Behavioral Features in Joubert Syndrome
Articolo
Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.
Articolo
Cover Image, Volume 170A, Number 7, July 2016
Articolo
Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait.
Articolo
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion
Articolo
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
Articolo
Deletion 2q31.2-q31.3 in a 4 year old girl with microcephaly and severe mental retardation
Articolo
Expanding CEP290 Mutational Spectrum in Ciliopathies
Articolo
Expanding the KIF4A-associated phenotype
Articolo
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review
Articolo
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother
Articolo
Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene
Articolo
Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members.
Articolo
Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype
Articolo
Gene-targeted deletion in mice of the Ets−1 transcription factor, a candidate gene in the Jacobsen syndrome kidney “critical region,” causes abnormal kidney development
Articolo
Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome
Articolo
Healthcare recommendations for Joubert syndrome
Articolo
Joubert Syndrome With Bilateral Polymicrogyria: Clinical and Neuropathological Findings in Two Brothers
Articolo
LZTFL1, a rare cause of Bardet–Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?
Articolo
Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome
Articolo
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype
Articolo
Mosaic Williams syndrome: A case report
Articolo
Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?
Articolo
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
Articolo
Novel unconventional variants expand the allelic spectrum of OPHN1 gene
Articolo
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome
Articolo
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum
Articolo
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.
Articolo
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome
Articolo
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features
Articolo
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11
Articolo
Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report
Articolo
Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male
Articolo
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation.
Articolo
Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.
Articolo
Search from genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.
Articolo
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome
Articolo
Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings.
Articolo
Vascular abnormalities in the fingers of patients affected with hereditary hemorrhagic teleangiectasia (HHT) as accessed by color Doppler sonography.
Articolo
Vestibular and audiological findings in the Alport syndrome
Articolo
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples
Articolo
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family.
Articolo
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family.
Articolo
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