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1. Full Text Associated anomalies in cases with esophageal atresia
by Stoll, Claude and Alembik, Yves and Dott, Beatrice and Roth, Marie‐Paule
American journal of medical genetics. Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2139 - 2157
tracheooesophageal fistula | congenital anomalies | congenital malformations | esophageal atresia | VACTERL association | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Disorders - epidemiology | Limb Deformities, Congenital - genetics | Congenital Abnormalities - epidemiology | Esophageal Atresia - epidemiology | Humans | Congenital Abnormalities - physiopathology | Stillbirth | Limb Deformities, Congenital - physiopathology | Male | Spine - abnormalities | Esophagus - physiopathology | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Anal Canal - physiopathology | Abnormalities, Multiple - epidemiology | Female | Esophageal Atresia - genetics | Trachea - physiopathology | Esophageal Atresia - complications | Chromosome Disorders - physiopathology | Abnormalities, Multiple - genetics | Kidney - physiopathology | Trachea - abnormalities | Esophageal Atresia - physiopathology | Chromosome Disorders - complications | Spine - physiopathology | Fetus - physiopathology | Esophagus - abnormalities | Abnormalities, Multiple - physiopathology | Anal Canal - abnormalities | Pregnancy | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Chromosome Aberrations | Heart Defects, Congenital - epidemiology | Limb Deformities, Congenital - complications | Heart Defects, Congenital - physiopathology | Chromosome Disorders - genetics | Development and progression | Birth defects | Genetic disorders | Etiology | Congenital defects | Hernias | Fetuses | CHARGE syndrome | Infants | Sudden infant death syndrome--SIDS | Esophagus | Index Medicus
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2. Full Text Multifaceted Hoxa13 function in urogenital development underlies the Hand-Foot-Genital Syndrome
by Roux, Marine and Bouchard, Maxime and Kmita, Marie
Human molecular genetics, ISSN 0964-6906, 05/2019, Volume 28, Issue 10, pp. 1671 - 1681
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | GATA3 Transcription Factor - genetics | Limb Deformities, Congenital - genetics | Kidney - pathology | Humans | Urogenital System - physiopathology | Foot Deformities, Congenital - genetics | Limb Deformities, Congenital - physiopathology | Urogenital System - growth & development | Foot Deformities, Congenital - physiopathology | Mullerian Ducts - physiopathology | Urogenital Abnormalities - physiopathology | Abnormalities, Multiple - genetics | Ureter - physiopathology | Ureter - abnormalities | Abnormalities, Multiple - physiopathology | Homeodomain Proteins - genetics | Animals | Hand Deformities, Congenital - genetics | Kidney - abnormalities | Hand Deformities, Congenital - physiopathology | Mice | Mutation | Extremities - growth & development | Extremities - physiopathology | Urogenital Abnormalities - genetics | Index Medicus
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3. Full Text Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails
by Kariminejad, Ariana and Ajeawung, Norbert Fonya and Bozorgmehr, Bita and DIonne-Laporte, Alexandre and Molidperee, Sirinart and Najafi, Kimia and Gibbs, Richard A and Lee, Brendan H and Hennekam, Raoul C and Campeau, Philippe M
Journal of human genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 465 - 471
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Eczema - diagnosis | Limb Deformities, Congenital - genetics | Eczema - genetics | Microcephaly - genetics | Face - abnormalities | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Adult | Female | Microcephaly - physiopathology | Child | Neck - physiopathology | Abnormalities, Multiple - genetics | Eczema - physiopathology | Micrognathism - physiopathology | Diagnosis, Differential | Eye Abnormalities - diagnosis | Micrognathism - genetics | Growth Disorders - diagnosis | Microcephaly - diagnosis | Nerve Tissue Proteins | Neck - abnormalities | Eye Abnormalities - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Membrane Proteins | Carrier Proteins - genetics | Limb Deformities, Congenital - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Eye Abnormalities - physiopathology | Mutation | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Pathology, Molecular | Karyotype | Growth Disorders - physiopathology | Index Medicus | small phalanges | UBE3B | Kaufman oculo-cerebro-facial syndrome | DOORS | whole exome sequencing
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4. Full Text VACTERL Association with Situs Inversus Totalis: A Unique Combination
by Slagle, Cara L and Schulz, Elizabeth V and Annibale, David J
Neonatal network, ISSN 0730-0832, 03/2019, Volume 38, Issue 2, pp. 98 - 106
Pediatrics and Neonatal | Critical Care, Acute Care, and Emergency | Nursing | Advanced Practice | Women's Health, Obstetrics, and Midwifery | Anal atresia | Limb malformations | Vertebral malformations | Esophageal atresia | Situs inversus | Renal malformations | Cardiac defects | Congenital malformations | Tracheoesophageal fistula | Aftercare - methods | Physical Examination - methods | Humans | Vestibulocochlear Nerve Diseases - congenital | Limb Deformities, Congenital - therapy | Limb Deformities, Congenital - physiopathology | Patient Care Management - methods | Spine - abnormalities | Esophagus - physiopathology | Radiography, Abdominal - methods | Situs Inversus - diagnosis | Anal Canal - physiopathology | Female | Situs Inversus - therapy | Vestibulocochlear Nerve Diseases - diagnosis | Trachea - physiopathology | Infant, Newborn | Kidney - physiopathology | Trachea - abnormalities | Diagnosis, Differential | Respiratory Distress Syndrome, Newborn - diagnosis | Situs Inversus - complications | Spine - physiopathology | Neonatal Screening - methods | Esophagus - abnormalities | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Situs Inversus - physiopathology | Heart Defects, Congenital - complications | Kidney - abnormalities | Heart Defects, Congenital - diagnosis | Limb Deformities, Congenital - complications | Radiography, Thoracic - methods | Heart Defects, Congenital - physiopathology | Heart Defects, Congenital - therapy
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5. Full Text Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings
by Azakli, Hülya and Akkaya, Ayse Deniz and Aygün, Murat Serhat and Demirkesen, Cüyan and Eraslan, Serpil and Kayserili, Hülya
American journal of medical genetics. Part A, ISSN 1552-4825, 01/2019, Volume 179, Issue 1, pp. 123 - 129
smooth muscle hamartoma | TODPD | hypopigmented patch | filamin A | digital fibroma | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Limb Deformities, Congenital - genetics | Fingers - diagnostic imaging | Humans | Child, Preschool | Infant | Limb Deformities, Congenital - physiopathology | Fingers - physiopathology | Bone Diseases, Developmental - genetics | Bone Diseases, Developmental - physiopathology | Toes - diagnostic imaging | Osteochondrodysplasias - genetics | Female | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Osteochondrodysplasias - diagnostic imaging | Filamins - genetics | Fingers - abnormalities | Bone Diseases, Developmental - diagnosis | Toes - physiopathology | Genetic Diseases, X-Linked - physiopathology | Pigmentation Disorders - physiopathology | Hypopigmentation - genetics | Pigmentation Disorders - diagnosis | Osteochondrodysplasias - diagnosis | Genetic Diseases, X-Linked - diagnosis | Pigmentation Disorders - genetics | Hand - physiopathology | Limb Deformities, Congenital - diagnosis | Hypopigmentation - physiopathology | Osteochondrodysplasias - physiopathology | Phenotype | Turkey - epidemiology | Bone Diseases, Developmental - diagnostic imaging | Limb Deformities, Congenital - diagnostic imaging | Hypopigmentation - diagnostic imaging | Pigmentation Disorders - diagnostic imaging | Mutation | Skin - physiopathology | Toes - abnormalities | Phenotypes | Splicing | Scalp | Bone dysplasia | Smooth muscle | Skeleton | Skin | Children | Neoplasia | Defects | Ossification | Index Medicus
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6. Full Text DDX3X mutations in two girls with a phenotype overlapping Toriello–Carey syndrome
by Dikow, Nicola and Granzow, Martin and Graul‐Neumann, Luitgard M and Karch, Stephanie and Hinderhofer, Katrin and Paramasivam, Nagarajan and Behl, Laura‐Jane and Kaufmann, Lilian and Fischer, Christine and Evers, Christina and Schlesner, Matthias and Eils, Roland and Borck, Guntram and Zweier, Christiane and Bartram, Claus R and Carey, John C and Moog, Ute
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2017, Volume 173, Issue 5, pp. 1369 - 1373
exome sequencing | DDX3X | intellectual disability | Toriello–Carey syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Agenesis of Corpus Callosum - diagnosis | Limb Deformities, Congenital - genetics | Pierre Robin Syndrome - physiopathology | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Heart Defects, Congenital - genetics | Genes, X-Linked | Agenesis of Corpus Callosum - genetics | Female | Urogenital Abnormalities - physiopathology | Child | Craniofacial Abnormalities - genetics | Urogenital Abnormalities - diagnosis | Agenesis of Corpus Callosum - physiopathology | Pierre Robin Syndrome - diagnosis | Intellectual Disability - physiopathology | DEAD-box RNA Helicases - genetics | Limb Deformities, Congenital - diagnosis | Exome - genetics | Phenotype | Pierre Robin Syndrome - genetics | Craniofacial Abnormalities - diagnosis | Intellectual Disability - diagnosis | Heart Defects, Congenital - diagnosis | Heterozygote | Heart Defects, Congenital - physiopathology | Mutation | Urogenital Abnormalities - genetics | Genotype & phenotype | Index Medicus
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7. Full Text Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia
by Ordal, Leslie and Keunen, Johannes and Martin, Nicole and Shehata, Nadine and Borschel, Gregory H and Clarke, Howard M and Toi, Ants and Shuman, Cheryl and Chitayat, David
American journal of medical genetics. Part A, ISSN 1552-4825, 12/2016, Volume 170, Issue 12, pp. 3083 - 3089
terminal transverse limb defects | thrombophilia | factor V Leiden | limb deformities | limb deficiency defect | hematologic | pregnancy complications | congenital | prenatal diagnosis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Thrombophilia - physiopathology | Humans | Limb Deformities, Congenital - physiopathology | Male | Blood Vessels - diagnostic imaging | Chorionic Villi Sampling - methods | Thrombophilia - epidemiology | Gestational Age | Thrombophilia - etiology | Blood Vessels - physiopathology | Pregnancy | Canada | Thrombophilia - diagnostic imaging | Extremities - blood supply | Mass Screening | Amniotic Band Syndrome - physiopathology | Limb Deformities, Congenital - etiology | Limb Deformities, Congenital - diagnostic imaging | Adult | Female | Extremities - physiopathology | Development and progression | Genetic disorders | Causes and theories of causation | Diseases | Defects | Index Medicus
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8. Full Text The split hand syndrome in amyotrophic lateral sclerosis
by Eisen, Andrew and Kuwabara, Satoshi
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 04/2012, Volume 83, Issue 4, pp. 399 - 403
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Neurology | Biological and medical sciences | Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis | Medical sciences | Genetic Diseases, X-Linked - epidemiology | Anterior Horn Cells - metabolism | Amyotrophic Lateral Sclerosis - physiopathology | Comorbidity | Humans | Anterior Horn Cells - pathology | Amyotrophic Lateral Sclerosis - diagnosis | Axons - metabolism | Limb Deformities, Congenital - physiopathology | Ulnar Nerve - physiopathology | Genetic Diseases, X-Linked - diagnosis | Evoked Potentials, Motor | Limb Deformities, Congenital - diagnosis | Limb Deformities, Congenital - epidemiology | Sensitivity and Specificity | Genetic Diseases, X-Linked - physiopathology | Amyotrophic Lateral Sclerosis - epidemiology | Causes of | Muscle tone | Amyotrophic lateral sclerosis | Diagnosis | Risk factors | Index Medicus
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9. Full Text Ca(v)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
by Splawski and Timothy, KW and Sharpe, LM and Decher, N and Kumar, P and Bloise, R and Napolitano, C and Schwartz, PJ and Joseph, RM and Condouris, K and Tager-Flusberg, H and Priori, SG and Sanguinetti, MC and Keating, MT
Cell (Cambridge), ISSN 0092-8674, 10/2004, Volume 119, Issue 1, pp. 19 - 31
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Limb Deformities, Congenital - genetics | Action Potentials - genetics | Autistic Disorder - physiopathology | Calcium - metabolism | Humans | Genetic Diseases, Inborn - genetics | Male | Cell Membrane - genetics | Arrhythmias, Cardiac - physiopathology | Mutation, Missense - genetics | Oocytes | Brain - metabolism | Genetic Diseases, Inborn - complications | Female | Cell Membrane - metabolism | Neurons - metabolism | Child | Abnormalities, Multiple - genetics | Arrhythmias, Cardiac - genetics | Infant, Newborn | Brain Chemistry - genetics | CHO Cells | Autistic Disorder - genetics | Heart - physiopathology | Cricetinae | Brain - physiopathology | Xenopus laevis | Abnormalities, Multiple - physiopathology | Syndrome | Animals | Calcium Channels, L-Type - genetics | Pedigree | Myocytes, Cardiac - metabolism | Limb Deformities, Congenital - complications | Arrhythmias, Cardiac - complications | Genetic Diseases, Inborn - physiopathology | Mice | Calcium Channels, L-Type - metabolism | Autistic Disorder - complications | Calcium Signaling - genetics | Index Medicus
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10. Full Text Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: A case report and review of literature
by Paththinige, Chamara Sampath and Sirisena, Nirmala Dushyanthi and Escande, Fabienne and Manouvrier, Sylvie and Petit, Florence and Dissanayake, Vajira Harshadeva Weerabaddana
BMC medical genetics, ISSN 1471-2350, 06/2019, Volume 20, Issue 1, pp. 108 - 108
BHLHA9 | Ectrodactyly | Split hand/foot malformation with long bone deficiency | 17p13.3 duplication | Split hand/foot malformation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gene Duplication | Limb Deformities, Congenital - genetics | Genetic Predisposition to Disease | Basic Helix-Loop-Helix Transcription Factors - genetics | Genetic Association Studies | Chromosome Duplication | Humans | Tibia - diagnostic imaging | Foot Deformities, Congenital - genetics | Limb Deformities, Congenital - physiopathology | Gene Dosage | Genetic Loci | Chromosomes, Human, Pair 17 - genetics | Tibia - abnormalities | Ectromelia | Comparative Genomic Hybridization | Hand Deformities, Congenital - genetics | Limb Deformities, Congenital - diagnostic imaging | Female | Gene Rearrangement - genetics | Infant, Newborn | Tibia - physiopathology | Musculoskeletal diseases | Case studies | Molecular genetics | Genetic aspects | Diagnosis | Research | Risk factors | Hands | Limbs | Pediatrics | Gene dosage | Congenital diseases | Congenital defects | Genes | Neurodevelopmental disorders | Genetic screening | Feet | Abdomen | Clubfoot | Polymerase chain reaction | Ultrasonic imaging | Genetic counseling | Gene rearrangement | Gene duplication | Photographs | Bone (long) | Mutation | Foot diseases | Index Medicus
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11. Full Text Congenital foot deformation alters the topographic organization in the primate somatosensory system
by Liao, Chia-Chi and Liao, Chia-Chi and Qi, Hui-Xin and Qi, Hui-Xin and Reed, Jamie L and Reed, Jamie L and Miller, Daniel J and Miller, Daniel J and Kaas, Jon H and Kaas, Jon H
Brain structure & function, ISSN 1863-2653, 1/2016, Volume 221, Issue 1, pp. 383 - 406
Neurology | Neurosciences | Somatotopy | Biomedicine | Plasticity | Reorganization | Macaque | Congenital limb deficiency | Cell Biology | Neurosciences & Neurology | Life Sciences & Biomedicine | Anatomy & Morphology | Science & Technology | Macaca radiata | Foot - innervation | Somatosensory Cortex - physiopathology | Electroencephalography - veterinary | Macaca fascicularis | Monkey Diseases - physiopathology | Action Potentials | Brain Mapping - veterinary | Animals | Thalamus - physiopathology | Neuronal Plasticity | Foot Deformities, Congenital - physiopathology | Neuroanatomical Tract-Tracing Techniques - veterinary | Foot Deformities, Congenital - veterinary | Brain Stem - physiopathology | Spinal Cord - physiopathology | Neural Pathways - physiopathology | Cerebrum - physiopathology | Primates | Birth defects | Genetic disorders | Analysis | Nervous system | Monkeys & apes | Deformities | Index Medicus
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