Lista de obras - Geert Mortier - Dominio Público Uruguay

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

artículo científico publicado en 2011

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.

artículo científico publicado en 2016

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene

article

A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization

artículo científico publicado en 2013

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia

artículo científico publicado en 2014

A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691→Arg) in the type II collagen trimer

article

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies

artículo científico publicado en 2007

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

artículo científico publicado en 2015

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.

artículo científico publicado en 2007

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene

article

Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips.

artículo científico publicado en 2003

Articulation in schoolchildren and adults with neurofibromatosis type 1.

artículo científico publicado en 2011

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies

scientific article published on 22 November 2019

Buschke-Ollendorff syndrome: A manifestation of a heterozygous nonsense mutation in the LEMD3 gene

article

COL2A1–related skeletal dysplasias with predominant metaphyseal involvement

Camurati-Engelmann disease (progressive diaphyseal dysplasia): reports of an Indian kindred.

artículo científico publicado en 2013

Carrier screening for cystic fibrosis in a prenatal setting

artículo científico publicado en 2001

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

artículo científico publicado en 2009

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene

artículo científico publicado en 1997

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

artículo científico publicado en 1998

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

artículo científico publicado en 2000

Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes

artículo científico publicado en 2001

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.

artículo científico publicado en 2004

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

artículo científico publicado en 2006

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

artículo científico publicado en 2012

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas

artículo científico publicado en 2006

Czech dysplasia metatarsal type: another type II collagen disorder

artículo científico publicado en 2007

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

artículo científico publicado en 2016

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

artículo científico publicado en 2010

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

artículo científico publicado en 2008

Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?

artículo científico publicado en 2005

Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome-wide non-invasive prenatal test.

artículo científico publicado en 2016

Disfluency: it is not always stuttering

artículo científico publicado en 2013

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

artículo científico publicado en 2010

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

artículo científico publicado en 1998

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

artículo científico publicado en 2005

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.

artículo científico publicado en 2009

Early presentation of cystic kidneys in a family with a homozygousINVSmutation

Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.

artículo científico publicado en 2016

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

artículo científico publicado en 2006

Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?

artículo científico publicado en 2007

Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS.

artículo científico publicado en 2006

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

artículo científico publicado en 2013

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

artículo científico publicado en 2013

Familial hypertryptasemia with associated mast cell activation syndrome.

artículo científico publicado en 2014

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

artículo científico publicado en 2015

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

article published in 2011

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

artículo científico publicado en 2009

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

artículo científico publicado en 2006

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity (Am J Med Genet 140A: 1726–1736)

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

artículo científico publicado en 2012

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

artículo científico publicado en 2009

Genotype-phenotype analysis of the branchio-oculo-facial syndrome

artículo científico publicado en 2011

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.

artículo científico publicado en 2010

Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene

article

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

artículo científico publicado en 2012

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

artículo científico publicado en 2012

Haploinsufficiency of TAB2 causes congenital heart defects in humans

artículo científico publicado en 2010

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

article

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

artículo científico publicado en 2013

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

scientific journal article

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

artículo científico publicado en 2002

Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia

artículo científico publicado en 2009

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips

artículo científico publicado en 2003

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)

artículo científico publicado en 2002

Hyperkalemia in young children: blood pressure checked?

artículo científico publicado en 2016

Hypogonadotropic hypogonadism in a female with the Johnson-McMillin syndrome

artículo científico publicado en 2004

Identification of CANT1 mutations in Desbuquois dysplasia

scientific article published on 22 October 2009

Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type

artículo científico publicado en 2005

Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity

artículo científico publicado en 2016

Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

artículo científico publicado en 1999

Imaging studies in the diagnostic workup of neonatal nasal obstruction.

artículo científico publicado en 2001

Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.

artículo científico publicado en 2010

Long-term acquired everolimus resistance in pancreatic neuroendocrine tumours can be overcome with novel PI3K-AKT-mTOR inhibitors

artículo científico publicado en 2016

Long-term impact of tongue reduction on speech intelligibility, articulation and oromyofunctional behaviour in a child with Beckwith-Wiedemann syndrome

artículo científico publicado en 2010

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

artículo científico publicado en 2014

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

artículo científico publicado en 2004

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

artículo científico publicado en 2012

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

artículo científico publicado en 2016

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.

artículo científico publicado en 2008

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

artículo científico publicado en 2013

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

artículo científico publicado en 2010

Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.

artículo científico publicado en 2004

Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints.

artículo científico publicado en 2004

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB.

artículo científico publicado en 2014

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

artículo científico publicado en 2012

Mutation in the type II collagen gene (COL2AI) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement

artículo científico publicado en 2014

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome

artículo científico publicado en 2002

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

artículo científico publicado en 2012

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

artículo científico publicado en 2012

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

artículo científico publicado en 2007

Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis

artículo científico publicado en 2012

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses

artículo científico publicado en 1998

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

artículo científico publicado en 2012

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

artículo científico publicado en 2011

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

artículo científico publicado en 2008

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

artículo científico publicado en 2015

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.

artículo científico publicado en 2001

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

artículo científico publicado en 2004

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

artículo científico publicado en 2016

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

artículo científico publicado en 2012

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

artículo científico publicado en 2011

Nasal speech in patients with 12q15 microdeletions.

artículo científico publicado en 2011

No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders

artículo científico publicado en 2013

Nosology and classification of genetic skeletal disorders: 2010 revision.

artículo científico publicado en 2011

Nosology and classification of genetic skeletal disorders: 2015 revision.

artículo científico publicado en 2015

Nosology and classification of genetic skeletal disorders: 2019 revision

scientific article published on 21 October 2019

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

artículo científico publicado en 2016

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

artículo científico publicado en 2014

Objective assessment of nasality in flemish adults with neurofibromatosis type 1

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

scientific article published on 12 January 2007

Overall intelligibility, articulation, resonance, voice and language in a child with Nager syndrome

artículo científico publicado en 2010

Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome

artículo científico publicado en 2007

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

artículo científico publicado en 2004

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

article

Phenotype and natural history in Marshall-Smith syndrome

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

artículo científico publicado en 2006

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

artículo científico publicado en 1995

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

artículo científico publicado en 2012

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

artículo científico publicado en 2008

Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism

article

Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

artículo científico publicado en 2012

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

artículo científico publicado en 2011

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12

artículo científico publicado en 2007

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

artículo científico publicado en 2000

Sclerosing bone dysplasias: leads toward novel osteoporosis treatments

artículo científico publicado en 2014

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation

artículo científico publicado en 2001

Speech disorders in neurofibromatosis type 1: a sample survey

artículo científico publicado en 2010

Speech fluency in neurofibromatosis type 1.

artículo científico publicado en 2010

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the sameCOL2A1mutation

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

artículo científico publicado en 2010

Stickler syndrome type I and Stapes ankylosis

artículo científico publicado en 2004

Subtelomeric imbalances in phenotypically normal individuals.

artículo científico publicado en 2007

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

artículo científico publicado en 2004

Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease

article

Temple-Baraitser syndrome: A rare and possibly unrecognized condition

Tetrasomy and pentasomy of the X chromosome

artículo científico publicado en 2011

The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height

artículo científico publicado en 2009

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for auto

article

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

artículo científico publicado en 2014

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

artículo científico

The heterozygous Lemd3 +/GT mouse is not a murine model for osteopoikilosis in humans

artículo científico publicado en 2009

The mutation spectrum in Holt-Oram syndrome

artículo científico publicado en 2000

The scapula as a window to the diagnosis of skeletal dysplasias.

artículo científico publicado en 1997

Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis

artículo científico publicado en 2010

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum

artículo científico publicado en 2007

Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes

article

Unusual 8p inverted duplication deletion with telomere capture from 8q.

artículo científico publicado en 2008

Voice characteristics in adults with neurofibromatosis type 1.

artículo científico publicado en 2010

Voice-related quality of life in adults with neurofibromatosis type 1.

artículo científico publicado en 2011

Whole body MR imaging in neurofibromatosis type 1.

artículo científico publicado en 2008

Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder

artículo científico publicado en 2016

Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1.

artículo científico publicado en 2015

Word-final prolongations in an adult male with neurofibromatosis type 1.

artículo científico publicado en 2010

X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation

artículo científico publicado en 2012

XYLT1 mutations in Desbuquois dysplasia type 2.

scientific article published on 27 February 2014

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

artículo científico publicado en 2005

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

artículo científico publicado en 2007

Lista de obras de Geert Mortier

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene

A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia

A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691→Arg) in the type II collagen trimer

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene

Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips.

Articulation in schoolchildren and adults with neurofibromatosis type 1.

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies

Buschke-Ollendorff syndrome: A manifestation of a heterozygous nonsense mutation in the LEMD3 gene

COL2A1–related skeletal dysplasias with predominant metaphyseal involvement

Camurati-Engelmann disease (progressive diaphyseal dysplasia): reports of an Indian kindred.

Carrier screening for cystic fibrosis in a prenatal setting

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas

Czech dysplasia metatarsal type: another type II collagen disorder

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?

Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome-wide non-invasive prenatal test.

Disfluency: it is not always stuttering

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.

Early presentation of cystic kidneys in a family with a homozygousINVSmutation

Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.

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

Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?

Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Familial hypertryptasemia with associated mast cell activation syndrome.

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity (Am J Med Genet 140A: 1726–1736)

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Genotype-phenotype analysis of the branchio-oculo-facial syndrome

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.

Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

Haploinsufficiency of TAB2 causes congenital heart defects in humans

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)

Hyperkalemia in young children: blood pressure checked?

Hypogonadotropic hypogonadism in a female with the Johnson-McMillin syndrome

Identification of CANT1 mutations in Desbuquois dysplasia

Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type

Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity

Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

Imaging studies in the diagnostic workup of neonatal nasal obstruction.

Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.

Long-term acquired everolimus resistance in pancreatic neuroendocrine tumours can be overcome with novel PI3K-AKT-mTOR inhibitors

Long-term impact of tongue reduction on speech intelligibility, articulation and oromyofunctional behaviour in a child with Beckwith-Wiedemann syndrome

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections