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List of works by Didier Lacombe

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype

scientific article published on 03 December 2011

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

scientific article published on 28 November 2017

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene

scientific article published on 3 September 2009

A 22-year French experience with solid tumors in children with Down syndrome

scientific article published in October 2003

A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation

scientific article published on 2 October 2007

A Point Mutation in the XNP Gene, Associated with an ATR-X Phenotype without a-Thalassemia

article

A case of Kabuki syndrome admitted for acute diarrhea and growth retardation in a French hospital in tropical area

scientific article

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

scientific article

A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.

scientific article published on 3 October 2012

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

scientific article

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

scientific article

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

article

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern

article

A new case of VACTERL association with unilateral amelia of upper limb

scientific article published on 01 July 2007

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies

scientific article

A novel de novo mutation in MYT1, the unique OAVS gene identified so far.

scientific article published on 14 June 2017

A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis

article

A patient with hydranencephaly and PEHO-like dysmorphic features

scientific article published in January 2003

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

scientific article published in October 1994

A review of malignancies in fragile X syndrome and report of an Ewing sarcoma

article published in 2008

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21

scientific article

A survey of ocular tumors in Down syndrome alone or associated with another genetic affection

AGC1/2, the mitochondrial aspartate-glutamate carriers.

scientific article published on 28 April 2016

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

scientific article published on 29 July 2016

Adaptative Capacity of Mitochondrial Biogenesis and of Mitochondrial Dynamics in Response to Pathogenic Respiratory Chain Dysfunction

scientific article published on 19 April 2012

Albinism in a patient with mutations at both the OA1 and OCA3 loci

scientific article

Albinisme oculo-cutané

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

scientific article

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

scientific article published on 21 September 2016

An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman

scientific article published on 05 January 2011

Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR.

scientific article

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

scientific article

Association of external auditory canal atresia, vertical talus, and hypertelorism: Confirmation of rasmussen syndrome

scientific article published on 01 June 2002

Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?

scientific article

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia

scientific article published on 8 February 2012

Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family

scientific article published in October 2004

Azoospermia as a new feature of Fabry disease

scientific article published on 29 January 2007

Azoospermie : un nouveau signe d’appel de la maladie de Fabry

scientific article published on 01 December 2010

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scientific article

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

scientific article

Bardet-Biedl syndrome

scientific article

Bardet-biedl syndrome and brain abnormalities.

scientific article published in February 2007

Behavioral and temperamental features of children with Costello syndrome

scientific article published in May 2006

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

article

Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female

scientific article

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

scientific article published in June 2006

Brachydactyly type A1 with short humerus and associated skeletal features

scientific article published on 01 December 2010

C5orf42 is the major gene responsible for OFD syndrome type VI.

scientific article published on November 2013

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke

scientific article published on 01 August 2007

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

scientific article published on 17 June 2016

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

scientific article published on 16 October 2017

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

scientific article published on 17 August 2007

Chapitre 9. Génétique médicale et éthique

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum

scientific article published on 2 February 2010

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

scientific article published on 23 October 2017

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

scientific article published on 25 March 2013

Clinical signs of Marfan syndrome in children under 10 years of age

scientific article

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

scientific article published on 22 June 2017

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion

scientific article

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders

scientific article

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

scientific article

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.

scientific article

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

scientific article

Congenital hypotrichosis and milia: Report of a large family suggesting X-linked dominant inheritance

scientific article published on 01 October 1994

Consultations d’oncogénétique pédiatrique : Quelles indications et quelles pratiques dans un service spécialisé de cancérologie pédiatrique ? Enquête dans le centre spécialisé du CHU de Bordeaux en 2011–2012

Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach

scientific article

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

scientific article published on 8 March 2017

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scholarly article published in Nature Genetics

Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma

scientific article published in March 2000

Craniofacial dysmorphology and three-dimensional ultrasound: a prospective study on practicability for prenatal diagnosis

scientific article published in October 2003

Cutaneous epidermal cysts as a presentation of gorlin syndrome

scientific article published on November 2009

Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review

scientific article

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

scientific article published on 2 December 2015

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

scientific article

Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma.

scientific article

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

scientific article

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

scientific article published on 21 March 2013

Detection of an Intragenic Deletion Expands the Spectrum of CTSC Mutations in Papillon–Lefèvre Syndrome

scientific article published on 18 October 2007

Diagnostic anténatal d’un cas familial de syndrome cérébro costo mandibulaire

scientific article published on 01 June 2007

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

scientific article published on 6 January 2016

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

scientific article published on 5 January 2012

Dysmorphies et gènes du développement

article

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

scientific article published on December 2012

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

scientific article

Eight previously unidentified mutations found in the OA1 ocular albinism gene

scientific article published in 2006

Erratum: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

article

Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

scholarly article published in European Journal of Human Genetics

Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome

scientific article published on 26 July 2017

Evidence of Postzygotic Mosaicism in a Transmitted Form of Conradi-H ünermann-Happle Syndrome Associated With a Novel EBP Mutation

article

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication

scientific article published on 20 July 2013

Fabry disease prenatal diagnosis

scientific article published on 01 March 2008

Fabry disease: proposed guidelines from a French expert group for its diagnosis, treatment and follow-up

scientific article published on 2 February 2007

Factor V Leiden, prothrombin 20210A, methylenetetrahydrofolate reductase 677T, and population genetics.

scientific article published on 26 September 2005

Familial occurrence of hereditary renal adysplasia with Müllerian anomalies

scientific article published on 01 January 1993

Faut-il envisager le dépistage néonatal de la maladie de Pompe ?

scientific article published on 24 April 2014

Fetal phenotypes in otopalatodigital spectrum disorders

scientific article published on 25 September 2015

Fetal presentation of PHACES syndrome

scientific article published on 01 January 2005

Finger creases lend a hand in Kabuki syndrome.

scientific article

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.

scientific article

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case

scientific article published on 31 March 2009

Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance

article

Four-Year Follow-up of Diagnostic Service in USH1 Patients

scientific article published on 08 June 2011

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.

scientific article published on 23 November 2016

Further delineation of Kabuki syndrome in 48 well-defined new individuals

scientific article published in January 2005

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

scientific article published on 30 September 2003

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene

scientific article published on 15 June 2017

Genetic basis of oculocutaneous albinism

Genetic osteoarticular diseases under the molecular biology spotlight

scientific article

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

scientific article

Germline mosaicism in Rubinstein-Taybi syndrome

scientific article published on 23 January 2013

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

scientific article published on 14 December 2008

Gonadal function in Smith-Lemli-Opitz syndrome.

scientific article published in January 1993

Growth patterns of patients with Noonan syndrome: correlation with age and genotype

scientific article

Génétique des mucopolysaccharidoses

scientific article published on 01 June 2014

Génétique, génomique et médecine

scientific article published on 12 October 2011

Hallerman–Streiff-like syndrome presenting with laterality and cardiac defects

scientific article published on 01 April 2009

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

article

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

scientific article (publication date: March 1996)

High glucose repatterns human podocyte energy metabolism during differentiation and diabetic nephropathy.

scientific article published on 17 October 2016

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

scientific article published on 18 November 2010

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

scientific article published on 23 October 2013

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents

scientific article

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

scientific article published on 31 August 2016

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences

scientific article published on 23 July 2018

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

article

Identification of Novel Mutations ConfirmsPDE4Das a Major Gene Causing Acrodysostosis

article

Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia

scientific article published on 01 June 2010

Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana

article

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

article

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

scientific article published on 14 January 2016

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

scientific article published on 9 November 2012

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

scientific article

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

scientific article published on 17 April 2017

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome

scientific article published on 29 November 2006

Keratoconus associated with Williams–Beuren syndrome: First case reports

scientific article published on 01 December 2010

LRP5 : le gène muté dans le syndrome d'ostéoporose avec pseudogliome et le phénotype de masse osseuse élevée

article

LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders

scientific article

La dysmorphologie et la syndromologie: une activité de généticiens pédiatres

scientific article published on 01 July 1995

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

scientific article published on 30 September 2015

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

scientific article

Leber's optic neuropathy associated with disseminated white matter disease: a case report and review

scientific article

Les pathologies génétiques ostéoarticulaires à l’ère de la biologie moléculaire

scholarly article by Didier Lacombe published November 2004 in Revue du rhumatisme (Ed. francaise : 1993)

Les protéines de la morphogenèse osseuse (BMP)

scientific article published on 01 January 1997

Limb body wall complex and amniotic band sequence in sibs

scientific article

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review

scientific article

Menkes disease: study of the mitochondrial respiratory chain in three cases

scientific article published on 01 January 1999

Metabolic Reprogramming in Amyotrophic Lateral Sclerosis

scientific article published on 2 March 2018

Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy

scientific article published in August 2007

Microdeletion of the chromosome 22q11 in children: apropos of a series of 49 patients

scientific article published in August 1996

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation

scientific article published on 22 December 2016

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

scientific article

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

article

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy

scientific article published on 01 March 2004

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

scientific article published on 2 February 2017

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects

scientific article published in October 2008

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

scientific article

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

scientific article

Mosaic maternal uniparental isodisomy for chromosome 7q21-qter

scientific article published on 01 September 2006

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

scientific article published on 15 June 2016

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

scientific article

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

scientific article published in March 1998

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

scientific article published in May 2006

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

scientific article

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.

scientific article published on 29 June 2016

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

scientific article

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

scientific article published on 13 January 2016

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

scientific article (publication date: August 2007)

Mutations in SETD2 cause a novel overgrowth condition

scientific article published on 22 May 2014

Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome

scientific article published on 11 December 2014

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

scientific article

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

scientific article published on 21 April 2013

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

article

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

scientific article

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

scientific article

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

scientific article published on 13 March 2017

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

article

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

scientific article

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

scientific article

Neonatal Proteus syndrome?

scientific article published in October 2002

Neurodevelopmental outcome following prenatal diagnosis of an isolated anomaly of the corpus callosum

scientific article published in March 2011

Neurofibromatosis type 1 with undescribed osseous abnormalities: new features?

scientific article published in April 2009

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

scientific article

Neurologic aspects of MECP2 gene duplication in male patients

scientific article published in September 2009

New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity

scientific article published on 29 April 2014

New case of Toriello-Carey syndrome.

scientific article

New clinico-genetic classification of trichothiodystrophy

scientific article

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

scientific article published on 20 August 2015

No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families

article

Non-specific gastrointestinal features: Could it be Fabry disease?

scientific article published on 01 March 2018

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

scientific article published on 23 November 2011

Névralgie amyotrophiante héréditaire ou forme pédiatrique familiale du syndrome de Parsonage et Turner

scientific article published on 01 November 2004

Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.

scientific article

Oculo-ectodermal syndrome: a new tumour predisposition syndrome

scientific article published on April 2004

Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature.

scientific article

Oral manifestations of patients with Kenny-Caffey Syndrome

scientific article published on 30 March 2012

Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome

scientific article published in March 2007

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance

scientific article published in January 2002

Osteoporosis in late-diagnosed adult homocystinuric patients

scientific article published on 01 June 2000

Ostéoarthropathie hypertrophique primitive familiale et dermatite atopique (maladie de Currarino)

scientific article published on 01 September 2002

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

scientific article published on 19 May 2016

Overlap between the Bazex syndrome and congenital hypotrichosis and milia.

scientific article published on May 1995

Perrault syndrome: Report of four new cases, review and exclusion of candidate genes

article

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

scientific article published on 27 November 2017

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

article

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations

scientific article

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

article

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

scientific article published on 18 April 2013

Phénotypes psycho-comportementaux de l'enfant et de l'adolescent dans les syndromes microdélétionnels

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

scientific article published on 01 November 2008

Polymorphisme d’expression de l’atteinte épileptique et cognitive du syndrome du chromosome 20 en anneau

scientific article published on 01 April 2011

Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis.

scientific article published in January 2006

Prenatal diagnosis using array-CGH: a French experience.

scientific article

Prevalence of mutations in AGPAT2 among human lipodystrophies

scientific article

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation

scientific article (publication date: 26 March 2002)

Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans

scientific article

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

scientific article published on 9 September 2011

Rare genetic diseases, signalling pathways, and keloid scar formation

scientific article published on 01 September 2014

Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin.

scientific article

Reduced placental telomere length during pregnancies complicated by intrauterine growth restriction.

scientific article

Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33

scientific article

Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin

scientific article published on 17 March 2010

Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I

scientific article published on 15 April 2011

Rubinstein-Taybi syndrome (CREBBP, EP300).

scientific article published on 28 July 2010

Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene

article

SCA27 is a cause of early-onset ataxia and developmental delay

scientific article published on 5 December 2014

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort

scientific article published on 17 June 2016

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism

scientific article published on 28 August 2013

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

scientific article published in June 2006

SMAD4 Germinal Mosaicism in a Family with Juvenile Polyposis and Hypertrophic Osteoarthropathy

scientific article published on 01 July 2005

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

scientific article published on 18 July 2011

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis

scientific article

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

scientific article published in October 2004

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

scientific article

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

scientific article published on August 2010

Self-healing congenital verruciform hyperkeratosis

scientific article published on 01 October 2004

Severe linear form of granuloma annulare along Blaschko’s lines preceding the onset of a classical form of granuloma annulare in a child

scientific article published on 24 August 2007

Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome

scientific article

Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients

article

Spectrum of PTCH1 mutations in French patients with Gorlin syndrome

scientific article published on September 2003

Spectrum of epilepsy in terminal 1p36 deletion syndrome

scientific article published on 21 November 2007

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

scientific article

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

scientific article

Syndrome d'Angelman et anévrisme intracrânien : association fortuite ou prédisposition génétique commune ?

scientific article published on 01 April 2005

Syndrome de Costello : aspects cliniques et risque tumoral

scientific article published on 01 October 2002

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

scientific article published on 18 March 2013

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

scientific article

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

scientific article published on 18 February 2016

Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments

scientific article

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

article

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

scientific article (publication date: 17 October 2012)

The Basques: review of population genetics and Mendelian disorders

scientific article

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

scientific article

The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders

scientific article published on 01 May 2008

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

scientific article published on 2 December 2015

The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq.

scientific article

The male phenotype in osteopathia striata congenita with cranial sclerosis

scientific article published on 01 October 2011

The phenotype of Floating-Harbor syndrome in 10 patients

scientific article

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

scientific article

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

scientific article

Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome

scientific article published on 16 October 2014

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

scientific article published on 19 March 2015

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress

scientific article published on 31 October 2008

Typical facial gestalt in X-linked Kabuki syndrome.

scientific article

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

scientific article published on 18 July 2007

X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.

scientific article published in August 2005

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