X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (605) 605
Publication (32) 32
Book Chapter (7) 7
Magazine Article (6) 6
Book Review (2) 2
Trade Publication Article (2) 2
Book / eBook (1) 1
Data Set (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
arachnodactyly (500) 500
humans (493) 493
marfan syndrome (342) 342
female (100) 100
child (90) 90
male (87) 87
index medicus (83) 83
adolescent (69) 69
marfan syndrome - complications (66) 66
genetics & heredity (63) 63
marfan syndrome - genetics (57) 57
congenital contractural arachnodactyly (56) 56
medical records (56) 56
mutation (53) 53
aortic aneurysm (47) 47
arachnodactyly - genetics (44) 44
aorta (43) 43
pathology (42) 42
infant (41) 41
marfan-syndrome (41) 41
phenotype (40) 40
adult (39) 39
bone diseases (37) 37
infant, newborn (36) 36
bone and bones - abnormalities (35) 35
fibrillins (35) 35
fibrillin (34) 34
diagnosis, differential (32) 32
marfan syndrome - diagnosis (32) 32
microfilament proteins - genetics (32) 32
pediatrics (31) 31
syndrome (31) 31
fibrillin-2 (30) 30
radiography (30) 30
congenital abnormalities (29) 29
contracture - genetics (29) 29
genetics, medical (29) 29
aneurysm (27) 27
animals (27) 27
child, preschool (27) 27
abnormalities, multiple - genetics (25) 25
diagnosis (25) 25
arachnodactyly - diagnosis (24) 24
fibrillin-1 (23) 23
disease (22) 22
genetic disorders (22) 22
contracture - diagnosis (21) 21
marfan syndrome - pathology (21) 21
pedigree (21) 21
cardiovascular diseases (20) 20
genetics (20) 20
lens, crystalline (20) 20
heart defects, congenital (19) 19
medicine, general & internal (19) 19
mutations (19) 19
intellectual disability (18) 18
pregnancy (18) 18
abnormalities, multiple - diagnosis (17) 17
aneurysm, dissecting (17) 17
gene (17) 17
heart diseases (17) 17
medicine (17) 17
aortic diseases (16) 16
contracture - congenital (16) 16
ectopia lentis (16) 16
genes (16) 16
genetic aspects (16) 16
research (16) 16
beals syndrome (15) 15
cardiovascular system (15) 15
ehlers-danlos syndrome (15) 15
middle aged (15) 15
scoliosis (15) 15
young adult (15) 15
blepharophimosis - genetics (14) 14
eye diseases (14) 14
marfan's syndrome (14) 14
mice (14) 14
angiography (13) 13
congenital contractures (13) 13
facies (13) 13
family (13) 13
heart valve diseases (13) 13
musculoskeletal diseases (13) 13
siblings (13) 13
aortic rupture (12) 12
blepharophimosis (12) 12
craniosynostoses - genetics (12) 12
dna mutational analysis (12) 12
exons (12) 12
fbn1 (12) 12
shprintzen-goldberg syndrome (12) 12
surgery (12) 12
analysis (11) 11
aortic aneurysm - complications (11) 11
arachnodactyly - pathology (11) 11
connective tissue (11) 11
craniosynostosis (11) 11
electrocardiography (11) 11
fbn2 (11) 11
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (442) 442
French (52) 52
Italian (24) 24
German (23) 23
Spanish (20) 20
Japanese (14) 14
Russian (12) 12
Dutch (6) 6
Hungarian (5) 5
Polish (5) 5
Portuguese (3) 3
Swedish (3) 3
Turkish (3) 3
Chinese (2) 2
Romanian (2) 2
Bulgarian (1) 1
Czech (1) 1
Danish (1) 1
Korean (1) 1
Norwegian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2012, Volume 158A, Issue 8, pp. 1971 - 1976
We report on a male neonate with prenatally diagnosed mosaicism for a supernumerary marker chromosome and multiple congenital anomalies. Prenatal ultrasound... 
Arachnodactyly
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 05/2019, Volume 104, Issue Suppl 2, p. A168
AimsWe identified that we all had individual clinical experiences with conditions commonly seen in the examination. Our aim was to find a way to share this... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2382 - 2387
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2016, Volume 170, Issue 9, pp. 2310 - 2321
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 11, pp. 1249 - 1254
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 734 - 744
Journal Article
American Journal of Medicine, The, ISSN 0002-9343, 2013, Volume 126, Issue 8, pp. 670 - 678
Abstract Aortic root and ascending aortic dilatation are indicators associated with risk of aortic dissection, which varies according to underlying etiologic... 
Internal Medicine | Bentall composite graft | Ghent diagnostic criteria | Loeys-Dietz syndrome | MASS phenotype | Familial thoracic aneurysm | Bicuspid aortic valve | Aortopathy | Marfan syndrome | SLEEP-APNEA | ROOT DILATION | NATURAL-HISTORY | CHILDREN | MEDICINE, GENERAL & INTERNAL | DISSECTION | MARFAN-SYNDROME | ANEURYSMS | BICUSPID AORTIC-VALVE | FBN1 MUTATIONS | CONNECTIVE-TISSUE | Aortic Aneurysm, Thoracic - genetics | Prognosis | Skin Diseases - genetics | Aortic Aneurysm - diagnosis | Aortic Valve - abnormalities | Humans | Aortic Aneurysm - therapy | Livedo Reticularis - therapy | Contracture - genetics | Mitral Valve Prolapse - genetics | Actins - genetics | Marfan Syndrome - therapy | Arachnodactyly - diagnosis | Actins - deficiency | Skin Diseases - diagnosis | Ehlers-Danlos Syndrome - genetics | Livedo Reticularis - diagnosis | Mitral Valve Prolapse - diagnosis | Ductus Arteriosus, Patent - diagnosis | Aortic Aneurysm, Thoracic - diagnosis | Arachnodactyly - genetics | Myopia - diagnosis | Heart Valve Diseases - diagnosis | Myopia - therapy | Livedo Reticularis - genetics | Diagnosis, Differential | Ductus Arteriosus, Patent - genetics | Skin Diseases - therapy | Echocardiography | Contracture - therapy | Ehlers-Danlos Syndrome - therapy | Loeys-Dietz Syndrome - diagnosis | Mitral Valve Prolapse - therapy | Marfan Syndrome - genetics | Ductus Arteriosus, Patent - therapy | Myopia - genetics | Loeys-Dietz Syndrome - therapy | Contracture - diagnosis | Heart Valve Diseases - genetics | Iris - abnormalities | Marfan Syndrome - diagnosis | Aortic Aneurysm, Thoracic - therapy | Arachnodactyly - therapy | Heart Valve Diseases - therapy | Loeys-Dietz Syndrome - genetics | Ehlers-Danlos Syndrome - diagnosis | Aortic Aneurysm - genetics
Journal Article
Human Mutation, ISSN 1059-7794, 06/2016, Volume 37, Issue 6, pp. 524 - 531
Marfan syndrome (MFS) is a rare, autosomal‐dominant, multisystem disorder, presenting with skeletal, ocular, skin, and cardiovascular symptoms. Significant... 
SMAD2 | TGFB2 | SMAD3 | TGFB3 | Marfan syndrome | TGFBR1 | Loeys–Dietz syndrome | TGF‐β signaling | TGFBR2 | SKI | thoracic aortic aneurysm | LDS | MFS | FBN1 | TGF-β signaling | Thoracic aortic aneurysm | Loeys-Dietz syndrome | SHPRINTZEN-GOLDBERG-SYNDROME | MITRAL-VALVE-PROLAPSE | ROOT DILATION | THORACIC AORTIC-ANEURYSM | TGFBR2 MUTATIONS | TGF-beta signaling | MOUSE MODEL | GENETICS & HEREDITY | MISSENSE MUTATION | BETA-BLOCKADE | ANGIOTENSIN-II BLOCKADE | Genetic Predisposition to Disease | Mitral Valve Prolapse - drug therapy | Skin Diseases - genetics | Craniosynostoses - genetics | Humans | Angiotensin Receptor Antagonists - pharmacology | Gene Expression Regulation | Loeys-Dietz Syndrome - drug therapy | Skin Diseases - drug therapy | Gene Regulatory Networks - drug effects | Mitral Valve Prolapse - genetics | Marfan Syndrome - genetics | Myopia - drug therapy | Myopia - genetics | Craniosynostoses - drug therapy | Animals | Marfan Syndrome - drug therapy | Transforming Growth Factor beta - genetics | Signal Transduction - drug effects | Arachnodactyly - drug therapy | Arachnodactyly - genetics | Loeys-Dietz Syndrome - genetics | Angiotensin Receptor Antagonists - therapeutic use | Aneurysms | Bone morphogenetic proteins | Transforming growth factors | Genes | Genetic disorders | Molecular biology | Mortality
Journal Article