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Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

Clinical genetics, 2017-08, Vol.92 (2), p.166-171

2017

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Clinical implementation of NIPT - technical and biological challenges

Clinical genetics, 2016-05, Vol.89 (5), p.523-530

2016

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Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

European heart journal, 2007-11, Vol.28 (22), p.2778-2784

2007

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Journal of medical genetics, 2006-08, Vol.43 (8), p.625-633

2006

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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Journal of medical genetics, 2009-04, Vol.46 (4), p.223-232

2009

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Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia

Prenatal diagnosis, 2013-12, Vol.33 (13), p.1283-1292

2013

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Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

Human molecular genetics, 2013-02, Vol.22 (4), p.696-703

2013

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The communication of secondary variants: interviews with parents whose children have undergone array-CGH testing

Clinical genetics, 2014-09, Vol.86 (3), p.207-216

2014

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Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update

Journal of intellectual disability research, 2007-09, Vol.51 (9), p.666-670

2007

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Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Journal of medical genetics, 2008-02, Vol.45 (2), p.71-80

2008

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The annual incidence of DiGeorge/velocardiofacial syndrome

Journal of medical genetics, 1998-09, Vol.35 (9), p.789-790

1998

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Anthropometric and aesthetic outcomes for the nasolabial region in 101 consecutive African children with unilateral cleft lip one year after repair using the anatomical subunit approximation technique

International journal of oral and maxillofacial surgery, 2017-10, Vol.46 (10), p.1338-1345

2017

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Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment

Hormone research in paediatrics, 2015-01, Vol.83 (5), p.361-364

2015

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Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure

The New England journal of medicine, 1998-04, Vol.338 (18), p.1317-1318

1998

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Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

Journal of medical genetics, 2010-08, Vol.47 (8), p.569-574

2010

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Randomized clinical trial on the influence of anaesthesia protocol on intestinal motility during laparoscopic surgery requiring small bowel anastomosis

British journal of surgery, 2012-11, Vol.99 (11), p.1524-1529

2012

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RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Journal of medical genetics, 2005-11, Vol.42 (11), p.820-828

2005

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A novel MSX1 mutation in hypodontia

American journal of medical genetics. Part A, 2004-08, Vol.128A (4), p.401-403

2004

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Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.313-318

2010

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Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

Journal of medical genetics, 2004-09, Vol.41 (9), p.691-698

2004

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Novel PORCN mutations in focal dermal hypoplasia

Clinical genetics, 2009-12, Vol.76 (6), p.535-543

2009

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Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS

Journal of medical genetics, 1997-06, Vol.34 (6), p.453-458

1997

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DISC1 duplication in two brothers with autism and mild mental retardation

Clinical genetics, 2010-04, Vol.77 (4), p.389-394

2010

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The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism

Journal of medical genetics, 2003-05, Vol.40 (5), p.352-356

2003

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Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

Journal of medical genetics, 2010-02, Vol.47 (2), p.103-111

2010

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Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

Clinical implementation of NIPT - technical and biological challenges

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

The communication of secondary variants: interviews with parents whose children have undergone array-CGH testing

Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

The annual incidence of DiGeorge/velocardiofacial syndrome

Anthropometric and aesthetic outcomes for the nasolabial region in 101 consecutive African children with unilateral cleft lip one year after repair using the anatomical subunit approximation technique

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment

Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

Randomized clinical trial on the influence of anaesthesia protocol on intestinal motility during laparoscopic surgery requiring small bowel anastomosis

RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

A novel MSX1 mutation in hypodontia

Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

Novel PORCN mutations in focal dermal hypoplasia

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS

DISC1 duplication in two brothers with autism and mild mental retardation

The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

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