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1. Full Text Génétique médicale et loi de réforme de la biologie
by Calvas, Patrick
Droit, Santé et Société, ISSN 0999-9809, 2018, Volume 1-2, Issue 1, pp. 29 - 40
Dans sa genèse et son application la loi de réforme de la biologie médicale de 2013 vient modifier et même remettre en question l'exercice de la génétique... 
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2. Full Text Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome
by Gerber, Sylvie and Alzayady, Kamil J and Burglen, Lydie and Brémond-Gignac, Dominique and Marchesin, Valentina and Roche, Olivier and Rio, Marlène and Funalot, Benoit and Calmon, Raphaël and Durr, Alexandra and Gil-da-Silva-Lopes, Vera Lucia and Ribeiro Bittar, Maria Fernanda and Orssaud, Christophe and Héron, Bénédicte and Ayoub, Edward and Berquin, Patrick and Bahi-Buisson, Nadia and Bole, Christine and Masson, Cécile and Munnich, Arnold and Simons, Matias and Delous, Marion and Dollfus, Helene and Boddaert, Nathalie and Lyonnet, Stanislas and Kaplan, Josseline and Calvas, Patrick and Yule, David I and Rozet, Jean-Michel and Fares Taie, Lucas
The American Journal of Human Genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 971 - 980
Gillespie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive cerebellar ataxia, intellectual disability, and iris hypoplasia.... 
SPINOCEREBELLAR ATAXIA | MENTAL-RETARDATION | CEREBELLAR-ATAXIA | GENETICS & HEREDITY | PARTIAL ANIRIDIA | MOLECULAR-CLONING | PAX6 GENE | MISSENSE MUTATIONS | NONSENSE MUTATION | INOSITOL 1,4,5-TRISPHOSPHATE RECEPTOR | CA2+ RELEASE CHANNELS | Genes, Recessive - genetics | Humans | Aniridia - etiology | Cerebellar Ataxia - etiology | Intellectual Disability - pathology | Child, Preschool | Infant | Male | Cerebellar Ataxia - pathology | Mutation - genetics | Aniridia - pathology | Pedigree | Adolescent | Female | Intellectual Disability - etiology | Child | Genes, Dominant - genetics | Infant, Newborn | Inositol 1,4,5-Trisphosphate Receptors - genetics | Causes of | Genetic aspects | Gene mutations | Health aspects | Aniridia | Ataxia | Genetic disorders | Mutation | Intellectual disabilities | Genes | Index Medicus | Report
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3. Full Text Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
by Perrault, Isabelle and Hanein, Sylvain and Zanlonghi, Xavier and Serre, Valérie and Nicouleau, Michael and Defoort-Delhemmes, Sabine and Delphin, Nathalie and Fares-Taie, Lucas and Gerber, Sylvie and Xerri, Olivia and Edelson, Catherine and Goldenberg, Alice and Duncombe, Alice and Le Meur, Gylã̈ne and Hamel, Christian and Silva, Eduardo and Nitschke, Patrick and Calvas, Patrick and Munnich, Arnold and Roche, Olivier and Dollfus, Hélène and Kaplan, Josseline and Rozet, Jean-Michel
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 975 - 977
In addition to its activity in nicotinamide adenine dinucleotide (NAD(+)) synthesis, the nuclear nicotinamide mononucleotide adenyltransferase NMNAT1 acts as a... 
ENZYMATIC-ACTIVITY | WLD(S) | NICOTINAMIDE MONONUCLEOTIDE ADENYLYLTRANSFERASE | WALLERIAN DEGENERATION | GENETICS & HEREDITY | Severity of Illness Index | Genetic Predisposition to Disease | Optic Atrophy - complications | Humans | Macular Degeneration - complications | Child, Preschool | Polymorphism, Single Nucleotide - physiology | Leber Congenital Amaurosis - genetics | Leber Congenital Amaurosis - complications | Young Adult | Mutation - physiology | Optic Atrophy - epidemiology | Macular Degeneration - genetics | Adolescent | Age of Onset | Macular Degeneration - epidemiology | Nicotinamide-Nucleotide Adenylyltransferase - genetics | Adult | Child | Leber Congenital Amaurosis - epidemiology | Cohort Studies | Optic Atrophy - genetics | Optic atrophy | Gene mutations | Patient outcomes | Development and progression | Genetic aspects | Leber's congenital amaurosis | Health aspects | Risk factors | Proteins | Genealogy | Disease | Insects | Genes | Genetics | Retina | Genomes | Mutation | Index Medicus
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4. Full Text ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
by Fares-Taie, Lucas and Gerber, Sylvie and Chassaing, Nicolas and Clayton-Smith, Jill and Hanein, Sylvain and Silva, Eduardo and Serey, Margaux and Serre, Valérie and Gérard, Xavier and Baumann, Clarisse and Plessis, Ghislaine and Demeer, Bénédicte and Brétillon, Lionel and Bole, Christine and Nitschke, Patrick and Munnich, Arnold and Lyonnet, Stanislas and Calvas, Patrick and Kaplan, Josseline and Ragge, Nicola and Rozet, Jean-Michel
The American Journal of Human Genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, pp. 265 - 270
Anophthalmia and microphthalmia (A/M) are early-eye-development anomalies resulting in absent or small ocular globes, respectively. A/M anomalies occur in... 
EYE DEVELOPMENT | GENETICS & HEREDITY | Introns - genetics | Genes, Recessive - genetics | Microphthalmos - genetics | Humans | Aldehyde Dehydrogenase - genetics | Exons - genetics | Male | Mutant Proteins - metabolism | Anophthalmos - enzymology | Mutation - genetics | Sequence Analysis, DNA | Anophthalmos - genetics | Homozygote | Pedigree | HEK293 Cells | Microphthalmos - enzymology | Aldehyde Oxidoreductases | Female | Chromosome Segregation - genetics | Genetic Linkage | Gene mutations | Causes of | Diagnosis | Research | Nucleotide sequencing | Gene expression | Anophthalmos | DNA sequencing | Enzymes | Genetic aspects | Aldehydes | Medical genetics | Tretinoin | Amino acids | Mutation | Protein synthesis | Eyes & eyesight | Index Medicus | Eye | Heart | Missense mutation | Anophthalmia | Open reading frames | Gene mapping | Aldehyde dehydrogenase | Retinoic acid | Microphthalmia | Report
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5. Full Text Through the looking glass: eye anomalies in the age of molecular science
by Patrick Calvas and Elias I Traboulsi and Nicola Ragge
Human Genetics, ISSN 0340-6717, 08/2019, pp. 1 - 4
Index Medicus
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6. Full Text Editorial to the special issue on “Molecular Genetics of Developmental Eye Disorders”
by Nicola Ragge and Patrick Calvas and Nicolas Chassaing
Human Genetics, ISSN 0340-6717, 08/2019, pp. 1 - 1
Eye disorders
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7. Full Text Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
by Bomont, Pascale and Barbot, Clara and Németh, Andrea H and M'Zahem, Abderrahim and Benhassine, Traki and Aubourg, Patrick and Schöls, Lüdger and Calvas, Patrick and Koenig, Michel and Tanaka, Makoto and Dürr, Alexandra and Sequeiros, Jorge and Coutinho, Paula and Brice, Alexis and Bouslam, Naïma and Mendonça, Pedro and Stevanin, Giovanni and Tazir, Meriem and Ber, Isabelle Le and Klur, Sandra and Pandolfo, Massimo and Dunne, Eimear and Moniz, José-Carlos and Warter, Jean-Marie and Watanabe, Mitsunori and Schulz, Jörg B and Moreira, Maria-Céu and Shaw, Christopher E and Tranchant, Christine and Guimarães, João and Shizuka-Ikeda, Masami and Shoji, Mikio and Pouget, Jean and Izatt, Louise
Nature Genetics, ISSN 1061-4036, 03/2004, Volume 36, Issue 3, pp. 225 - 227
Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which... 
ENCODES | SPINOCEREBELLAR ATAXIA | SEN1 | GENE | DNA | GENETICS & HEREDITY | PERIPHERAL NEUROPATHY | CEREBELLAR ATROPHY | Cerebellar Ataxia - genetics | Humans | RNA Helicases - genetics | Chromosome Mapping | Chromosomes, Human, Pair 9 | Fungal Proteins - genetics | Mutation | Saccharomyces cerevisiae Proteins - genetics | Ocular Motility Disorders - genetics | alpha-Fetoproteins - metabolism | Complications and side effects | Gene mutations | Physiological aspects | Ataxia | Genetic aspects | Diagnosis | Research | Helicases | Risk factors | Index Medicus
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8. Full Text Mini‐Exome Coupled to Read‐Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias
by Marelli, Cecilia and Guissart, Claire and Hubsch, Cecile and Renaud, Mathilde and Villemin, Jean‐Philippe and Larrieu, Lise and Charles, Perrine and Ayrignac, Xavier and Sacconi, Sabrina and Collignon, Patrick and Cuntz‐Shadfar, Danielle and Perrin, Laurine and Benarrosh, Anelia and Degardin, Adrian and Lagha‐Boukbiza, Ouhaïd and Mutez, Eugenie and Carlander, Bertrand and Morales, Raul Juntas and Gonzalez, Victoria and Carra‐Dalliere, Clarisse and Azakri, Souhayla and Mignard, Claude and Ollagnon, Elisabeth and Pageot, Nicolas and Chretien, Dominique and Geny, Christian and Azulay, Jean‐Philippe and Tranchant, Christine and Claustres, Mireille and Labauge, Pierre and Anheim, Mathieu and Goizet, Cyril and Calvas, Patrick and Koenig, Michel
Human Mutation, ISSN 1059-7794, 12/2016, Volume 37, Issue 12, pp. 1340 - 1353
Next‐generation sequencing (NGS) has an established diagnostic value for inherited ataxia. However, the need of a rigorous process of analysis and validation... 
exome sequencing | ataxia | mini‐exome | copy number variations | molecular diagnosis | trinucleotide repeat expansion | mini-exome | TELANGIECTASIA | OCULOMOTOR APRAXIA TYPE-2 | QUADRUPEDAL LOCOMOTION | BIFUNCTIONAL PROTEIN-DEFICIENCY | XERODERMA-PIGMENTOSUM | GENE | DISEASE | GENETICS & HEREDITY | COMPLEMENTATION GROUP-F | MUTATIONS | DOMINANT CEREBELLAR-ATAXIA | Genetic Predisposition to Disease | Humans | Peroxisomal Multifunctional Protein-2 - genetics | Cerebellar Ataxia - etiology | Child, Preschool | Male | DNA-Binding Proteins - genetics | DNA Copy Number Variations | Membrane Glycoproteins - genetics | Exome | Young Adult | Carrier Proteins - genetics | Cerebellar Ataxia - genetics | Adolescent | Age of Onset | Adult | Female | Ataxia Telangiectasia Mutated Proteins - genetics | High-Throughput Nucleotide Sequencing - methods | Child | Sequence Analysis, DNA - methods | Genetic research | Genetic aspects | Information management | Analysis | Genes | Ataxia | Genetic disorders | Algorithms | Mutation | Genomics | Index Medicus | Life Sciences | Genetics | Human genetics
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9. Full Text Molecular and in silico analyses of the full‐length isoform of usherin identify new pathogenic alleles in Usher type II patients
by Baux, David and Larrieu, Lise and Blanchet, Catherine and Hamel, Christian and Ben Salah, Safouane and Vielle, Anne and Gilbert‐Dussardier, Brigitte and Holder, Muriel and Calvas, Patrick and Philip, Nicole and Edery, Patrick and Bonneau, Dominique and Claustres, Mireille and Malcolm, Sue and Roux, Anne‐Françoise
Human Mutation, ISSN 1059-7794, 08/2007, Volume 28, Issue 8, pp. 781 - 789
The usherin gene ( USH2A ) has been screened for mutations causing Usher syndrome type II (USH2). Two protein isoforms have been identified: a short isoform of... 
USH2A | Usher syndrome | usherin | Usherin | Protein Structure, Tertiary | Amino Acid Sequence | Computational Biology - methods | Cysteine | Extracellular Matrix Proteins - chemistry | Protein Structure, Secondary | Extracellular Matrix Proteins - genetics | Humans | Middle Aged | Models, Molecular | Molecular Sequence Data | Genotype | Mutation - genetics | Usher Syndromes - genetics | DNA Mutational Analysis | Protein Isoforms - chemistry | Adolescent | Alleles | Adult | Aged | Child | Protein Isoforms - genetics | Index Medicus
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10. Full Text Compositional diversity of rehabilitated tropical lands supports multiple ecosystem services and buffers uncertainties
by Knoke, Thomas and Paul, Carola and Hildebrandt, Patrick and Calvas, Baltazar and Castro, Luz Maria and Hartl, Fabian and Dollerer, Martin and Hamer, Ute and Windhorst, David and Wiersma, Yolanda F and Curatola Fernández, Giulia F and Obermeier, Wolfgang A and Adams, Julia and Breuer, Lutz and Mosandl, Reinhard and Beck, Erwin and Weber, Michael and Stimm, Bernd and Haber, Wolfgang and Fürst, Christine and Bendix, Jörg
Nature Communications, ISSN 2041-1723, 06/2016, Volume 7, Issue 1, pp. 11877 - 11877
High landscape diversity is assumed to increase the number and level of ecosystem services. However, the interactions between ecosystem service provision,... 
BIODIVERSITY | CONSERVATION | DECISION-MAKING | PERSPECTIVE | MULTIDISCIPLINARY SCIENCES | RESILIENCE | CARBON STORAGE | TRADE-OFFS | AFFORESTATION | PORTFOLIO | ADAPTIVE MANAGEMENT
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11. Full Text Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis
by Soler, Vincent José and Tran-Viet, Khanh-Nhat and Galiacy, Stéphane D and Limviphuvadh, Vachiranee and Klemm, Thomas Patrick and St Germain, Elizabeth and Fournié, Pierre R and Guillaud, Céline and Maurer-Stroh, Sebastian and Hawthorne, Felicia and Suarez, Cyrielle and Kantelip, Bernadette and Afshari, Natalie A and Creveaux, Isabelle and Luo, Xiaoyan and Meng, Weihua and Calvas, Patrick and Cassagne, Myriam and Arné, Jean-Louis and Rozen, Steven G and Malecaze, François and Young, Terri L
Journal of Medical Genetics, ISSN 0022-2593, 2013, Volume 50, Issue 4, pp. 246 - 254
Background Corneal intraepithelial dyskeratosis is an extremely rare condition. The classical form, affecting Native American Haliwa-Saponi tribe members, is... 
POLYMORPHISMS | HEREDITARY | ALIGNMENT | DATABASE | INFLAMMATION | DISEASE | GENETICS & HEREDITY | INTRA-EPITHELIAL DYSKERATOSIS | NLRP1 | EXPRESSION | MANIFESTATIONS | Gene Frequency | Humans | Male | Mutation, Missense | Dyskeratosis Congenita - genetics | Epithelium, Corneal - pathology | Apoptosis Regulatory Proteins - metabolism | Exome | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Apoptosis Regulatory Proteins - genetics | Dyskeratosis Congenita - pathology | Epithelium, Corneal - metabolism | Adult | Female | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Adaptor Proteins, Signal Transducing - metabolism | Child | Corneal Keratocytes - pathology | Usage | Gene mutations | Epithelial cells | Abnormalities | Exome sequencing | Causes of | Genetic aspects | Research | Index Medicus
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12. Full Text Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood
by Faguer, Stanislas and Decramer, Stéphane and Chassaing, Nicolas and Bellanné-Chantelot, Christine and Calvas, Patrick and Beaufils, Sandrine and Bessenay, Lucie and Lengelé, Jean-Philippe and Dahan, Karine and Ronco, Pierre and Devuyst, Olivier and Chauveau, Dominique
Kidney International, ISSN 0085-2538, 10/2011, Volume 80, Issue 7, pp. 768 - 776
Mutations in are responsible for a dominantly inherited disease with renal and nonrenal consequences, including maturity-onset diabetes of the young (MODY)... 
hypomagnesemia | MODY5 | tubulointerstitial nephropathy | adult patients | HNF1Beta | RENAL CYSTS | GENOMIC REARRANGEMENTS | YOUNG TYPE-5 | FACTOR-I BETA | DIABETES SYNDROME | HEPATOCYTE NUCLEAR FACTOR-1-BETA | FACTOR 1-ALPHA | CHROMOSOME 17Q12 | UROLOGY & NEPHROLOGY | GENE DELETION | HYPERECHOGENIC KIDNEYS | Prognosis | Diabetes Mellitus, Type 2 - genetics | Humans | Kidney Diseases - diagnosis | Middle Aged | Diabetic Nephropathies - genetics | Male | Disease Progression | Kidney Diseases - genetics | Young Adult | Point Mutation | Phenotype | DNA Mutational Analysis | Pedigree | Gene Deletion | Adolescent | Kidney Diseases - therapy | Adult | Female | Aged | Mutation | Hepatocyte Nuclear Factor 1-beta - genetics | Index Medicus
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13. Full Text Avoiding the loss of shade coffee plantations: how to derive conservation payments for risk-averse land-users
by Castro, Luz Maria and Calvas, Baltazar and Hildebrandt, Patrick and Knoke, Thomas
Agroforestry Systems, ISSN 0167-4366, 4/2013, Volume 87, Issue 2, pp. 331 - 347
We usually have only limited knowledge about the economic consequences of land-use decisions, thus they are uncertain. We analyze the implications of this... 
Life Sciences | Biodiversity conservation | Mean–variance | Stochastic dominance | Uncertainty | Conservation payments | Forestry | Agriculture | Diversification | Agroforestry | Mean-variance | BIODIVERSITY | AGROFORESTRY SYSTEMS | FAIR TRADE | AGRONOMY | INVESTMENT DECISIONS | VEGETATION STRUCTURE | STOCHASTIC-DOMINANCE APPROACH | AGRICULTURE | ECOSYSTEM SERVICES | FORESTRY | LATIN-AMERICA | ENVIRONMENTAL SERVICES HELP | Investment analysis | Wildlife conservation | Biological diversity conservation | Ecosystems | Plantations | Protection and preservation | Forest management | Coffee industry | Sustainable forestry | Methods | Environmental protection
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14. Full Text Afforestation or intense pasturing improve the ecological and economic value of abandoned tropical farmlands
by Knoke, Thomas and Bendix, Jörg and Pohle, Perdita and Hamer, Ute and Hildebrandt, Patrick and Roos, Kristin and Gerique, Andrés and Sandoval, María L and Breuer, Lutz and Tischer, Alexander and Silva, Brenner and Calvas, Baltazar and Aguirre, Nikolay and Castro, Luz M and Windhorst, David and Weber, Michael and Stimm, Bernd and Günter, Sven and Palomeque, Ximena and Mora, Julio and Mosandl, Reinhard and Beck, Erwin
Nature Communications, ISSN 2041-1723, 2014, Volume 5, Issue 1, pp. 5612 - 5612
Increasing demands for livelihood resources in tropical rural areas have led to progressive clearing of biodiverse natural forests. Restoration of abandoned... 
SOUTHERN ECUADOR | CONSERVATION | REFORESTATION | REGENERATION | MULTIDISCIPLINARY SCIENCES | LAND-USE | SOIL | RESTORATION | ECOSYSTEM SERVICES | ANDES | FOREST | Pinus - growth & development | Conservation of Natural Resources - methods | Ecuador | Ecosystem | Forestry - methods | Trees - growth & development | Forestry - economics | Conservation of Natural Resources - economics | Index Medicus
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15. Full Text Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia
by Srour, Myriam and Chitayat, David and Caron, Véronique and Chassaing, Nicolas and Bitoun, Pierre and Patry, Lysanne and Cordier, Marie-Pierre and Capo-Chichi, José-Mario and Francannet, Christine and Calvas, Patrick and Ragge, Nicola and Dobrzeniecka, Sylvia and Hamdan, Fadi F and Rouleau, Guy A and Tremblay, André and Michaud, Jacques L
The American Journal of Human Genetics, ISSN 0002-9297, 10/2013, Volume 93, Issue 4, pp. 765 - 772
Anophthalmia and/or microphthalmia, pulmonary hypoplasia, diaphragmatic hernia, and cardiac defects are the main features of PDAC syndrome. Recessive mutations... 
ANOPHTHALMIA/MICROPHTHALMIA | MORPHOGENESIS | MALFORMATIONS | VARIANTS | ABNORMALITIES | ANOPHTHALMIA | GENETICS & HEREDITY | TERATOGENICITY | STRA6 MUTATIONS | MOUSE FETUSES | MATTHEW-WOOD-SYNDROME | Microphthalmos - genetics | Humans | Hernia, Diaphragmatic - genetics | Male | Receptors, Retinoic Acid - metabolism | Microphthalmos - metabolism | Receptors, Retinoic Acid - genetics | Anophthalmos - genetics | Exome | Anophthalmos - metabolism | Retinol-Binding Proteins - metabolism | Tretinoin - metabolism | Adolescent | Retinol-Binding Proteins - genetics | Female |