Difference between revisions of "OMIM References"

From Embryology
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201180 ACROFRONTOFACIONASAL DYSOSTOSIS 1]
 
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201180 ACROFRONTOFACIONASAL DYSOSTOSIS 1]
  
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====Pierre Robin Syndrome====
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302380 CATEL-MANZKE SYNDROME]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277610 WEISSENBACHER-ZWEYMULLER SYNDROME; WZS]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261800 PIERRE ROBIN SYNDROME]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172880 PIERRE ROBIN SYNDROME AND OLIGODACTYLY]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311900 PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108300 STICKLER SYNDROME, TYPE I; STL1]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143200 HYALOIDEORETINAL DEGENERATION OF WAGNER]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192430 VELOCARDIOFACIAL SYNDROME]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208155 ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154780 MARSHALL SYNDROME]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117650 CEREBROCOSTOMANDIBULAR SYNDROME]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184840 STICKLER SYNDROME, TYPE II; STL2]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290 COLLAGEN, TYPE XI, ALPHA-2; COL11A2]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601186 ANOPHTHALMIA AND PULMONARY HYPOPLASIA]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900 HEMOGLOBIN--BETA LOCUS; HBB]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=128600 EAR MALFORMATION]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225040 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM]
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*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131240 ENDOTHELIN 1; EDN1]
 
=== Urogenital ===
 
=== Urogenital ===
 
====Kidney====
 
====Kidney====

Revision as of 06:26, 25 March 2010

Introduction

There are many different Online Mendelian Inheritence in Man (OMIM) reference materials used in UNSW Embryology. Selected OMIM references can also be found on the Abnormalities (page 2) of each section of Notes and there are also search buttons that will perform searches using specific term(s) of external databases. Some search results will allow access to the full original document, while others may require a Journal subscription to access the full document.

Students when referencing specific materials should as much as possible cite the original Research article and not Review articles. When wanting to give a broad overview or summaries of the field, the Review articles should be cited (and indicated as "reviews"). Students should also avoid direct text cut and paste and if absolutely necessary should place in "quotation marks" citing the original reference.

About OMIM "Online Mendelian Inheritance in Man OMIM is a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources." OMIM


Links: Original Embryo Page | OMIM | Citing OMIM?

Page Links


2010 OMIM Pages by Developmental Topic

Week 1

Fertilization

Spermatozoa Motility

Spermatozoa

Cardiovascular

Tetralogy of Fallot

Atrial Septal Defect

Musculoskeletal

Muscular Dystrophy

Syndactyly


Scoliosis

Congenital Dislocation of the Hip


Head and Neck

Cleft Lip

Cleft Palate

Pierre Robin Syndrome

Urogenital

Kidney

Gonad

Gastrointestinal Tract

Hirschsprung Disease


Coelomic Cavity

Diaphragmatic Hernia

Respiratory

187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD]

1999 OMIM Pages

In 1999 I searched the Online Mendelian Inheritence in Man (OMIM) database and selected a small number of references for each topic. These earlier searches are now slightly out of date, but should still be a good starting point for those interested in the topics.

These pages retain the original earlier site (Version 3) page layout.

Week 1

Fertilization

Week 2

Week 3

Abnormal Development

Neural

Cardiovascular

Musculoskeletal

Gastrointestinal

Head and Neck

Coelomic Cavity

Respiratory

Neural Crest

Senses

Urogenital

Kidney

Gonad

Endocrine