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A Novel Intragenic Deletion in Ophn1 in A Boy with Developmental Delay, Strabismus and Cerebellar Hypoplasia

International Journal of Pediatrics & Neonatal Care, 2015-05, Vol.1 (1)

2015

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Brief Notes on Pregnancy, Prenatal Diagnosis, and Preimplantation Procedures in NF1

Multidisciplinary Approach to Neurofibromatosis Type 1, 2020, p.305-308

2020

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Epidemiology of Neurofibromatosis Type 1

Multidisciplinary Approach to Neurofibromatosis Type 1, 2020, p.1-4

2020

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Autosomal Dominant Diseases are too Often Overlooked in the Parents of Affected Children: Report of Six Cases

Journal of genetic syndrome & gene therapy, 2013, Vol.4 (10)

Maria Francesca Bedeschi, Giulia Melloni

2013

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SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel

Molecular syndromology, 2023, Vol.13 (6), p.543-550

2023

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Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome

Genes, 2022, Vol.13 (12)

2022

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Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation

American journal of medical genetics. Part A, 2020, Vol.182 (12), p.2982-2987

2020

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Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test

The journal of obstetrics and gynaecology research, 2019, Vol.45 (3), p.705-708

2019

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Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS

Frontiers in neurology, 2018, Vol.9, p.967-967

2018

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MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions

Molecular cytogenetics, 2016, Vol.9, p.80-80

2016

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A Genotype First Approach in Currarino Syndrome

International Journal of Pediatrics and Child Health, 2013-04, Vol.1 (1), p.11-14

2013

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13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature

Molecular cytogenetics, 2018, Vol.11, p.53-53

2018

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Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome

Congenital Anomalies, 2016, Vol.56 (4), p.187-189

2016

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Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome

Congenital anomalies, 2016, Vol.56 (4), p.187-189

2016

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Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report

Pediatric blood & cancer, 2016, Vol.63 (3), p.572-573

2016

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Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome

Seizure, 2015, Vol.32, p.49-51

2015

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Microdeletion 2q23.3q24.1: Exploring genotype-phenotype correlations

Congenital Anomalies, 2015, Vol.55 (2), p.107-111

2015

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A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype

American Journal of Medical Genetics Part A, 2013, Vol.161A (3), p.611-618

2013

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A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies

European journal of medical genetics, 2010, Vol.53 (5), p.325-328

2010

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Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome

American Journal of Medical Genetics Part A, 2009, Vol.149A (11), p.2532-2537

2009

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La sindrome di Rubistein-Taybi

Area Pediatrica, 2012-06, Vol.13 (3), p.63-66

2012

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Biliary atresia and Kabuki syndrome: Another case with long-term follow-up

American journal of medical genetics, 2001-05, Vol.100 (3), p.251-251

2001

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Anomalies of the kidney and urinary tract are common in de Lange syndrome

American Journal of Medical Genetics Part A, 2005, Vol.132A (4), p.395-397

2005

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Additional case of Tsukahara's syndrome or new syndrome: Further delineation of the association of microcephaly and radio-ulnar synostosis

American Journal of Medical Genetics Part A, 2005, Vol.132A (2), p.189-190

2005

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Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome

American Journal of Medical Genetics Part A, 2009, Vol.149A (6), p.1268-1272

2009

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Cornelia De Lange Syndrome
(2)
Epidemiology
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Intellectual Disability
(2)
Life Sciences & Biomedicine
(2)
Science & Technology
(2)
2q Deletion
(1)
2q23q24
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6q21-Q22 Deletion
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Acro-Cardio-Facial Syndrome
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Array-Comparative Genomic Hybridization
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Autonomy
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Behavioral Disorders
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Biliary Atresia - Complications
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Biliary Atresia - Surgery
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Brachmann-De Lange Syndrome
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Child
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Chromosome 5q35.3
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Chromosome 6
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Cirrhosis
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Congenital Heart Defects
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A Novel Intragenic Deletion in Ophn1 in A Boy with Developmental Delay, Strabismus and Cerebellar Hypoplasia

Brief Notes on Pregnancy, Prenatal Diagnosis, and Preimplantation Procedures in NF1

Epidemiology of Neurofibromatosis Type 1

Autosomal Dominant Diseases are too Often Overlooked in the Parents of Affected Children: Report of Six Cases

SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel

Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome

Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation

Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS

MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions

A Genotype First Approach in Currarino Syndrome

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature

Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome

Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome

Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report

Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome

Microdeletion 2q23.3q24.1: Exploring genotype-phenotype correlations

A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype

A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies

Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome

La sindrome di Rubistein-Taybi

Biliary atresia and Kabuki syndrome: Another case with long-term follow-up

Anomalies of the kidney and urinary tract are common in de Lange syndrome

Additional case of Tsukahara's syndrome or new syndrome: Further delineation of the association of microcephaly and radio-ulnar synostosis

Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome

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