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1. PRADER-WILLI SYNDROME: DEVELOPMENT AND MANIFESTATIONS
by WHITTINGTON, JOYCE
2004, ISBN 0521840295, 232
Prader-Willi syndrome (PWS) is associated with an assortment of physical, behavioural and cognitive abnormalities which create a broad range of care needs.... 
Prader-Willi syndrome
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2. Understanding Williams syndrome
: behavioral patterns and interventions
by Semel, Eleanor Messing and Rosner, Sue R
2003, ISBN 0805826181, xxi, 456
Comprehensive and readable, Understanding Williams Syndrome: Behavioral Patterns and Interventions is an essential guide for all those professionally,... 
Williams syndrome | Other branches of medicine | Psychiatry & Clinical Psychology - Adult | Mathematics | Inclusion and Special Educational Needs | Cognition disorders in children | Elementary Secondary Education | Language Skills | Perceptual Motor Coordination | Spatial Ability | Congenital Impairments | Language Acquisition | Mental Retardation | Profiles | Williams Syndrome | Children | Social Development | Interpersonal Competence
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3. Management of Prader-Willi syndrome
by Butler, Merlin G and Lee, Phillip D. K and Whitman, Barbara Y
2006, 3rd ed., ISBN 0387253971, xxiii, 550
Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS.... 
Prader-Willi syndrome | Clinical & internal medicine | Human Genetics | Pediatrics | Clinical Psychology | Medicine & Public Health | Endocrinology
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4. Management of Prader-Willi syndrome
by Alexander, Randell C and Greenswag, Louise R and Prader-Willi Syndrome Association
1995, 2nd ed., ISBN 9780387943732, xxi, 393
Prader-Willi Syndrome
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5. Spatial representation
: from gene to mind
by Landau, Barbara, 1949 and Hoffman, James E
2012, Developmental Cognitive Neuroscience, ISBN 9780195385373, xv, 375
Our experience of the spatial world is a unitary one; we perceive objects and layouts, we remember them and act on them, and we can even talk about them with... 
Cognition disorders | Williams syndrome | Biology, life sciences | cognitive psychology | Space | Dorsal Stream | Object Recognition | Navigation | Language | Ventral Stream | Genes | Development | Williams Syndrome | Cognition
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6. Management of Prader-Willi syndrome
by Alexander, Randell C and Greenswag, Louise R
1988, ISBN 9780387966878, xix, 310
Prader-Willi syndrome
Book
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7. Williams syndrome across languages
by Bartke, Susanne and Siegmüller, Julia
2004, Language acquisition & language disorders, ISBN 1588114945, Volume 36, xv, 383
Language disorders in children | Language | Patients | Williams syndrome
Book
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8. Full Text Bloom syndrome
by Arora, Harleen and Chacon, Anna H and Choudhary, Sonal and McLeod, Michael P and Meshkov, Lauren and Nouri, Keyvan and Izakovic, Jan
International Journal of Dermatology, ISSN 0011-9059, 07/2014, Volume 53, Issue 7, pp. 798 - 802
Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3... 
POPULATION | BLM | INSTABILITY | SYNDROME GENE-PRODUCT | MUTATION | CONNECTS | FANCONI-ANEMIA | CANCER | HELICASE | FAMILY | DERMATOLOGY | Diagnosis, Differential | Prognosis | Bloom Syndrome - diagnosis | Bloom Syndrome - genetics | Humans | Bloom Syndrome - therapy | Lymphomas
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9. The boy who loved too much
: a true story of pathological friendliness
by Latson, Jennifer, author
2017, First Simon & Schuster hardcover edition., ISBN 9781476774053, x, 290 pages
"Twelve-year-old Eli D'Angelo has a genetic disorder that obliterates social inhibitions, making him irrepressibly friendly, indiscriminately trusting, and... 
Parenting | Friends | Trust | Patients | PSYCHOLOGY | Williams syndrome | FAMILY & RELATIONSHIPS | People with Disabilities | SOCIAL SCIENCE | Friendship in children | Neuropsychology | Social interaction in children | Child | Interpersonal Relations
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10. Journey from cognition to brain to gene
: perspectives from Williams Syndrome
by Bellugi, Ursula and St. George, Marie and Galaburda, Albert M
2001, ISBN 0262523124, xx, 189 p., [4] p. of plates
Genetic aspects | Pathophysiology | Cognition disorders in children | Williams syndrome | williams syndrome | cognition disorders in children | pathophysiology | genetic aspects | Williams syndrome-Genetic aspects | Williams syndrome-Pathophysiology
Book
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11. Fanconi Syndrome
by Foreman, John W
Pediatric Clinics of North America, ISSN 0031-3955, 02/2019, Volume 66, Issue 1, pp. 159 - 167
Fanconi syndrome, also known as the DeToni, Debré, Fanconi syndrome is a global dysfunction of the proximal tubule characterized by glucosuria, phosphaturia,... 
Cystinosis | Lowe syndrome | Proximal tubule | Dent disease | Fanconi syndrome | PROTEIN | PEDIATRICS | NEPHROPATHIC CYSTINOSIS | Fanconi Syndrome - diagnosis | Diagnosis, Differential | Child | Fanconi Syndrome - therapy | Humans
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12. Williams-Beuren syndrome
: research, evaluation, and treatment
2006, ISBN 0801882125, xiv, 366
Book
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13. Full Text Current and future role of genetic screening in gynecologic malignancies
by Ring, Kari L., MD and Garcia, Christine, MD and Thomas, Martha H., MS and Modesitt, Susan C., MD
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 2017, Volume 217, Issue 5, pp. 512 - 521
The world of hereditary cancers has seen exponential growth in recent years. While hereditary breast and ovarian cancer and Lynch syndrome account for the... 
Obstetrics and Gynecology | BRCA | risk reduction | screening | ovarian cancer | high risk | endometrial cancer | hereditary cancer | cervical cancer | Lynch syndrome | BRCA2 MUTATION CARRIERS | LI-FRAUMENI SYNDROME | LYNCH-SYNDROME | COLORECTAL-CANCER SYNDROME | PEUTZ-JEGHERS-SYNDROME | RANDOMIZED-TRIAL | REDUCING SALPINGO-OOPHORECTOMY | FAMILIAL OVARIAN-CANCER | OBSTETRICS & GYNECOLOGY | GERMLINE MUTATIONS | Genetic Testing | DNA Polymerase III - genetics | Hereditary Breast and Ovarian Cancer Syndrome - diagnosis | Humans | Li-Fraumeni Syndrome - diagnosis | DNA Mismatch Repair - genetics | Tumor Suppressor Protein p53 - genetics | Genital Neoplasms, Female - diagnosis | Li-Fraumeni Syndrome - genetics | Epithelial Cell Adhesion Molecule - genetics | Genes, BRCA2 | Female | RNA Helicases - genetics | Lynch Syndrome II - genetics | Neoplastic Syndromes, Hereditary - genetics | Genes, BRCA1 | Genital Neoplasms, Female - genetics | Hereditary Breast and Ovarian Cancer Syndrome - genetics | PTEN Phosphohydrolase - genetics | Genetic Predisposition to Disease | Hamartoma Syndrome, Multiple - genetics | Fanconi Anemia Complementation Group Proteins - genetics | Protein-Serine-Threonine Kinases - genetics | Neoplastic Syndromes, Hereditary - diagnosis | MutS Homolog 2 Protein - genetics | DNA-Binding Proteins - genetics | Peutz-Jeghers Syndrome - genetics | Hamartoma Syndrome, Multiple - diagnosis | MutL Protein Homolog 1 - genetics | Peutz-Jeghers Syndrome - diagnosis | Lynch Syndrome II - diagnosis | Mismatch Repair Endonuclease PMS2 - genetics | Gene mutations | Endometrial cancer | Diagnosis | Cervical cancer | Genetic screening | Cancer | Ovarian cancer
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14. Full Text Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome
by Maciejczyk, Mateusz and Mikoluc, Bozena and Pietrucha, Barbara and Heropolitanska - Pliszka, Edyta and Pac, Malgorzata and Motkowski, Radosław and Car, Halina
Redox Biology, ISSN 2213-2317, 04/2017, Volume 11, Issue C, pp. 375 - 383
Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by... 
Antioxidants | Oxidative stress | Nijmegen breakage syndrome (NBS) | Oxidative damage | Bloom syndrome (BS) | Ataxia-telangiectasia (A-T) | CELLS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DNA-DAMAGE | DOUBLE-STRAND BREAKS | FIBROBLAST-CULTURES | DEFECTIVE RESPONSE | GENE | PRODUCT | RESISTANCE | ATM ACTIVATION | DYSFUNCTION | Bloom Syndrome - pathology | Nijmegen Breakage Syndrome - pathology | NADPH Oxidase 4 - genetics | Reactive Oxygen Species - metabolism | Signal Transduction | Humans | Nijmegen Breakage Syndrome - metabolism | Gene Expression Regulation | Oxidative Stress - genetics | Bloom Syndrome - metabolism | Ataxia Telangiectasia - metabolism | Mitochondria - metabolism | Bloom Syndrome - genetics | Mitochondria - pathology | Lipoproteins, LDL - genetics | Nijmegen Breakage Syndrome - genetics | NADPH Oxidase 4 - metabolism | Poly(ADP-ribose) Polymerases - metabolism | Poly(ADP-ribose) Polymerases - genetics | Ataxia Telangiectasia - pathology | DNA Repair | Ataxia Telangiectasia - genetics | Lipoproteins, LDL - metabolism | DNA Damage
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15. Full Text Drug-induced renal fanconi syndrome
by Hall, A.M and Bass, P and Unwin, R.J
QJM, ISSN 1460-2725, 2014, Volume 107, Issue 4, pp. 261 - 269
A number of therapeutic drugs are toxic to the kidney proximal tubule (PT) and can cause the renal Fanconi syndrome (FS). The most frequently implicated drugs... 
TUBULAR DYSFUNCTION | PHOSPHATE | MEDICINE, GENERAL & INTERNAL | THERAPY | ABNORMALITIES | DEFERASIROX | RANDOMIZED-TRIAL | VALPROIC ACID | TOXICITY | TENOFOVIR | NEPHROTOXICITY | Fanconi Syndrome - diagnosis | Fanconi Syndrome - epidemiology | Prognosis | Fanconi Syndrome - therapy | Humans | Risk Factors | Kidney Function Tests - methods | Drug Monitoring - methods | Fanconi Syndrome - chemically induced | Index Medicus
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16. Full Text Tenofovir‐associated Fanconi syndrome and nephrotic syndrome in a patient with chronic hepatitis B monoinfection
by Hwang, Hyeon Seok and Park, Cheol Whee and Song, Myeong Jun
Hepatology, ISSN 0270-9139, 10/2015, Volume 62, Issue 4, pp. 1318 - 1320
Tenofovir disoproxil fumarate (TDF) is widely used as an effective first‐line therapy for chronic hepatitis B (CHB) infection. While TDF demonstrates... 
GASTROENTEROLOGY & HEPATOLOGY | Hepatitis B, Chronic - drug therapy | Tenofovir - adverse effects | Tenofovir - therapeutic use | Antiviral Agents - therapeutic use | Antiviral Agents - adverse effects | Humans | Adult | Female | Fanconi Syndrome - chemically induced | Nephrotic Syndrome - chemically induced | Hepatitis | Rodents
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17. Full Text Dangerous small B-cell clones
by Merlini, Giampaolo and Stone, Marvin J
Blood, ISSN 0006-4971, 10/2006, Volume 108, Issue 8, pp. 2520 - 2530
The detection of a monoclonal immunoglobulin in serum or urine usually raises concerns about the size of the underlying B-cell-derived clone and possible... 
BENCE-JONES PROTEINS | HEAVY-CHAIN | FREE LIGHT-CHAINS | HEPATITIS-C VIRUS | PRIMARY SYSTEMIC AMYLOIDOSIS | AL PRIMARY AMYLOIDOSIS | ACQUIRED FANCONI-SYNDROME | HEMATOLOGY | CHAIN DEPOSITION DISEASE | HIGH-DOSE DEXAMETHASONE | ENDOTHELIAL GROWTH-FACTOR | Autoantibodies - blood | Humans | Cryoglobulinemia - diagnosis | Amyloidosis - diagnosis | Histiocytosis - immunology | Antibodies, Monoclonal - blood | Amyloidosis - immunology | Clone Cells - immunology | POEMS Syndrome - diagnosis | Anemia, Hemolytic, Autoimmune - diagnosis | Amyloidosis - etiology | Anemia, Hemolytic, Autoimmune - etiology | Fanconi Syndrome - diagnosis | POEMS Syndrome - etiology | Histiocytosis - etiology | Histiocytosis - diagnosis | POEMS Syndrome - immunology | Cryoglobulinemia - etiology | Antibodies, Monoclonal - urine | Autoantibodies - urine | Fanconi Syndrome - etiology | Cryoglobulinemia - immunology | B-Lymphocytes - immunology | Guillain-Barre Syndrome - diagnosis | Guillain-Barre Syndrome - immunology | Models, Biological | Anemia, Hemolytic, Autoimmune - immunology | Guillain-Barre Syndrome - etiology | Fanconi Syndrome - immunology
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18. Full Text A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns–Sayre syndrome
by Tzoufi, Meropi and Tzoufi, Meropi and Makis, Alexandros and Makis, Alexandros and Chaliasos, Nikolaos and Chaliasos, Nikolaos and Nakou, Iliada and Nakou, Iliada and Siomou, Ekaterini and Siomou, Ekaterini and Tsatsoulis, Agathoklis and Tsatsoulis, Agathoklis and Zikou, Anastasia and Zikou, Anastasia and Argyropoulou, Maria and Argyropoulou, Maria and Bonnefont, Jean Paul and Bonnefont, Jean Paul and Siamopoulou, Antigone and Siamopoulou, Antigone
European Journal of Pediatrics, ISSN 0340-6199, 4/2013, Volume 172, Issue 4, pp. 557 - 561
Kearns–Sayre syndrome (KSS) is a rare mitochondrial DNA deletion syndrome defined as the presence of ophthalmoplegia, pigmentary retinopathy, onset less than... 
Pediatrics | Primary hypoparathyroidism | Kearns–Sayre syndrome | Medicine & Public Health | Fanconi syndrome | Addison's disease | Kearns-Sayre syndrome | PEDIATRIC-PATIENTS | PEDIATRICS | MITOCHONDRIAL-DNA | DELETION | Fanconi Syndrome - diagnosis | Diagnosis, Differential | Humans | Addison Disease - complications | Male | Fanconi Syndrome - complications | Addison Disease - diagnosis | Muscular Diseases - diagnosis | Hypoparathyroidism - diagnosis | Kearns-Sayre Syndrome - physiopathology | Fatal Outcome | Kearns-Sayre Syndrome - diagnosis | Child | Kearns-Sayre Syndrome - complications | Hypoparathyroidism - etiology | Medical colleges | Parathyroid hormone | Hypoparathyroidism | Development and progression | Mitochondrial DNA | Ophthalmology | Health aspects
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19. Full Text Hereditary predispositions to myelodysplastic syndrome
by Bannon, Sarah A and Dinardo, Courtney D
International Journal of Molecular Sciences, ISSN 1661-6596, 06/2016, Volume 17, Issue 6, pp. 838 - 838
Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic disorders characterized by ineffective hematopoiesis, bone marrow dysplasia, and... 
Genetic counseling | Hereditary | MDS | Familial | Germline | Predisposition | germline | GERM-LINE | BIOCHEMISTRY & MOLECULAR BIOLOGY | predisposition | ACUTE MYELOID-LEUKEMIA | FAMILIAL THROMBOCYTOPENIA | FANCONI-ANEMIA | CANCER | CHEMISTRY, MULTIDISCIPLINARY | genetic counseling | familial | GENETICS | DYSKERATOSIS-CONGENITA | MALIGNANCIES | hereditary | MUTATIONS | INHERITED THROMBOCYTOPENIA | Genetic Predisposition to Disease - genetics | Genetic Testing | Hemoglobinuria, Paroxysmal - genetics | Proto-Oncogene Proteins c-ets - genetics | Humans | Signal Recognition Particle - genetics | Repressor Proteins - genetics | Male | Heredity | Genetic Counseling | Bone Marrow Diseases - genetics | DEAD-box RNA Helicases - genetics | Female | Myelodysplastic Syndromes - genetics | Nuclear Proteins - genetics | Core Binding Factor Alpha 2 Subunit - genetics | Anemia, Aplastic - genetics | GATA2 Transcription Factor - genetics | Leukemia, Myeloid, Acute - genetics | Genetic disorders | Blood diseases | Risk factors
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