Found: 49
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Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.
- Published in:
- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 7, doi. 10.1186/1750-1172-6-7
- By:
- Publication type:
- Article
Prosodic features of maternal input to children with sex chromosome trisomies.
- Published in:
- First Language, 2022, v. 42, n. 5, p. 613, doi. 10.1177/01427237221098553
- By:
- Publication type:
- Article
Preverbal skills in 8-month-old children with sex chromosome trisomies.
- Published in:
- First Language, 2021, v. 41, n. 2, p. 200, doi. 10.1177/0142723720962944
- By:
- Publication type:
- Article
Banking together. A unified model of informed consent for biobanking.
- Published in:
- EMBO Reports, 2008, v. 9, n. 4, p. 307, doi. 10.1038/embor.2008.41
- By:
- Publication type:
- Article
Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review.
- Published in:
- 2008
- By:
- Publication type:
- journal article
STAR syndrome plus: The first description of a female patient with the lethal form.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3226, doi. 10.1002/ajmg.a.38484
- By:
- Publication type:
- Article
Prenatal Diagnosis of Simpson-Golabi-Behmel Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3258, doi. 10.1002/ajmg.a.37873
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- Publication type:
- Article
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1551, doi. 10.1002/ajmg.a.37063
- By:
- Publication type:
- Article
Response to 'Prenatal genetic counseling in klinefelter syndrome: Comments on the article by Lalatta and Tint [2013] and a proposal of a new approach' by Pimpolari et al.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 678, doi. 10.1002/ajmg.a.36892
- By:
- Publication type:
- Article
Unusual prenatal presentation of Rubinstein-Taybi syndrome: A case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2663, doi. 10.1002/ajmg.a.36684
- By:
- Publication type:
- Article
Counseling parents before prenatal diagnosis: Do we need to say more about the sex chromosome aneuploidies?
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2873, doi. 10.1002/ajmg.a.36226
- By:
- Publication type:
- Article
Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams-beuren syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1666, doi. 10.1002/ajmg.a.35982
- By:
- Publication type:
- Article
Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 817, doi. 10.1002/ajmg.a.35655
- By:
- Publication type:
- Article
Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 386, doi. 10.1002/ajmg.a.35720
- By:
- Publication type:
- Article
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0470-z
- By:
- Publication type:
- Article
Prenatal diagnosis of genetic syndromes may be facilitated by serendipitous findings at fetal blood sampling.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 8, p. 834, doi. 10.1002/(SICI)1097-0223(199808)18:8<834::AID-PD340>3.0.CO;2-6
- By:
- Publication type:
- Article
Web-Based Surveillance of Public Information Needs for Informing Preconception Interventions.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122551
- By:
- Publication type:
- Article
Language Development in the Second Year of Life: The Case of Children with Sex Chromosome Trisomies Diagnosed before Birth.
- Published in:
- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 3, p. 1831, doi. 10.3390/ijerph19031831
- By:
- Publication type:
- Article
Before Is Better: Innovative Multidisciplinary Preconception Care in Different Clinical Contexts.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 19, p. 6352, doi. 10.3390/jcm12196352
- By:
- Publication type:
- Article
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 613, doi. 10.1038/ejhg.2012.224
- By:
- Publication type:
- Article
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 611, doi. 10.1038/ejhg.2008.233
- By:
- Publication type:
- Article
Why women do not ask for information on preconception health? A qualitative study.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration.
- Published in:
- Human Reproduction Update, 2004, v. 10, n. 6, p. 541, doi. 10.1093/humupd/dmh046
- By:
- Publication type:
- Article
Fetal death associated with diffuse mesangial sclerosis combined with bilateral multicystic kidney.
- Published in:
- Case Reports in Perinatal Medicine, 2013, v. 2, n. 1/2, p. 33, doi. 10.1515/crpm-2012-0064
- By:
- Publication type:
- Article
Full COLD-PCR Protocol for Noninvasive Prenatal Diagnosis of Genetic Diseases.
- Published in:
- Clinical Chemistry, 2011, v. 57, n. 1, p. 136, doi. 10.1373/clinchem.2010.155671
- By:
- Publication type:
- Article
An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 778, doi. 10.1002/ajmg.a.33870
- By:
- Publication type:
- Article
Clinical follow-up of young adults affected by Williams syndrome: Experience of 45 Italian patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 353, doi. 10.1002/ajmg.a.33819
- By:
- Publication type:
- Article
Partial Trisomy of 7q: Case Report and Literature Review.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 5, p. 572, doi. 10.1177/0883073807309776
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- Publication type:
- Article
Seizure and EEG Patterns in Angelman's Syndrome.
- Published in:
- Journal of Child Neurology, 1995, v. 10, n. 6, p. 467, doi. 10.1177/088307389501000609
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- Publication type:
- Article
Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy.
- Published in:
- Italian Journal of Pediatrics, 2016, v. 42, p. 1, doi. 10.1186/s13052-016-0285-0
- By:
- Publication type:
- Article
Increased RISK for 47,XXY on cell‐free DNA screen: Not always Klinefelter syndrome.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 10, p. 1255, doi. 10.1002/pd.5890
- By:
- Publication type:
- Article
A comment on "clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision-making".
- Published in:
- 2018
- By:
- Publication type:
- Letter
Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Prenatal and postnatal findings in five cases of Fryns syndrome.
- Published in:
- 2014
- By:
- Publication type:
- Other
Author's reply regarding 'Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome'.
- Published in:
- Prenatal Diagnosis, 2013, v. 33, n. 3, p. 303, doi. 10.1002/pd.4046
- By:
- Publication type:
- Article
Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 11, p. 1102, doi. 10.1002/pd.3965
- By:
- Publication type:
- Article
Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
De novo balanced chromosome rearrangements in prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 3, p. 257, doi. 10.1002/pd.2215
- By:
- Publication type:
- Article
Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 10, p. 978, doi. 10.1002/pd.2110
- By:
- Publication type:
- Article
Norman-Roberts syndrome: characterization of the phenotype in early fetal life.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 6, p. 568, doi. 10.1002/pd.1728
- By:
- Publication type:
- Article
Limited value of echography to predict true fetal mosaicism for trisomy 12.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 12, p. 1186, doi. 10.1002/pd.1587
- By:
- Publication type:
- Article
Frontal bilateral megalencephaly: fetal and autopsy MR evaluation of an unclassified malformation.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 6, p. 489, doi. 10.1002/pd.1178
- By:
- Publication type:
- Article
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
- Published in:
- Human Mutation, 2015, v. 36, n. 5, p. 562, doi. 10.1002/humu.22784
- By:
- Publication type:
- Article
Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Maternal input to children with sex chromosome trisomies.
- Published in:
- International Journal of Language & Communication Disorders, 2020, v. 55, n. 5, p. 724, doi. 10.1111/1460-6984.12557
- By:
- Publication type:
- Article
Vocal and gestural productions of 24‐month‐old children with sex chromosome trisomies.
- Published in:
- International Journal of Language & Communication Disorders, 2018, v. 53, n. 1, p. 171, doi. 10.1111/1460-6984.12334
- By:
- Publication type:
- Article
Impaired glucose metabolism in subjects with the Williams-Beuren syndrome: A five-year follow-up cohort study.
- Published in:
- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0185371
- By:
- Publication type:
- Article