The Gale Genetic Disorders of encyclopedia vol 1 - part 5 pps
The Gale Genetic Disorders of encyclopedia vol 1 - part 5 pps
... 19 98): 4 4 1- 448. GALE ENCYCLOPEDIA OF GENETIC DISORDERS 2 85 Crane-Heise syndrome Lurie, I. “Genetics of the Costello Syndrome.” American Journal of Medical Genetics (September 19 94): 35 8-3 59 . Van ... 21st Street, New York, NY 10 010 . ( 212 ) 88 9- 314 1. Ͻhttp://www.navh.orgϾ. National Eye Institute. 31 Center Dr., Bldg. 31, Rm 6A32, MSC 2 51 0 , Bethesda...
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The Gale Genetic Disorders of encyclopedia vol 1 - part 3 ppsx
... 94 010 -1 6 21. ( 650 ) 25 9-3 984. Fax: ( 650 ) 25 9-3 983. Ͻhttp://www.ataxiamjd.orgϾ. International Joseph Disease Foundation, Inc. PO Box 255 0, Livermore, CA 9 45 5 1- 255 0. (9 25) 4 6 1- 755 0. (9 25) 3 7 1- 12 88. ... 11 q13” means chromosome number 11 , long arm, region 1, band 3. In studies of families with BBS, researchers have found that a significant number of...
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The Gale Genetic Disorders of encyclopedia vol 1 - part 6 pps
... therapies. 352 GALE ENCYCLOPEDIA OF GENETIC DISORDERS Down syndrome Down Syndrome Family Robertsonian Translocation d.62y d.40y 2 3 29y 31y 4y 2y 9y 3y 36y 34y 1y 46, XX, der (14 ; 21) (q10;q10), + 21 = 45, ... factor 1 (IGF -1 ) , which is indica- tive of a higher than normal resistance to growth hormone. Examination of the patient’s fibroblasts showed nor- mal binding...
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The Gale Genetic Disorders of encyclopedia vol 1 - part 10 ppsx
... 11 54 5. (800) 4 5 1- 6434. Fax: ( 51 6 ) 6 7 1- 4 055 . Ͻhttp://www. hgf1@hgfound.orgϾ. International Center for Skeletal Dysplasia. Saint Joseph’s Hospital, 7620 York Rd., Towson, MD 212 04. ( 410 ) 33 7- 12 50 . Little ... pigment epithelium-specific protein RPE 65 1p 31 LCA3 Unknown Unknown 14 q24 LCA4 Arlhydrocarbon-interacting protein-like 1 AIPL1 17 p13 .1 LCA5 Unknown...
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The Gale Genetic Disorders of encyclopedia vol 1 - part 1 ppsx
... problems. Limb-lengthening can increase overall height by 12 -1 4 in (30. 5- 3 5. 6 cm). It does not change the other physical manifestations of achondropla- sia such as the appearance of the hands and ... or ( 210 ) 49 0- 716 1. Fax: ( 210 ) 49 0- 716 1 or 210 -4 9 7-3 810 . Ͻhttp://www.amda-pompe.orgϾ. Association for Glycogen Storage Disease (United Kingdom). 013...
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The Gale Genetic Disorders of encyclopedia vol 1 - part 2 docx
... specific region of the chro- mosome 15 inherited from the mother. This region is designated 15 q 1 1- 13 (bands 11 through 13 on the long arm of chromosome 15 ). The fact that AS occurs only when there are ... distur- bance of the chromosome structure involving the mater- nal 15 q 1 1- 15q13. This mechanism is responsible for about 1% of AS cases. Unknown mechanis...
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The Gale Genetic Disorders of encyclopedia vol 1 - part 4 pptx
... Baltimore, MD 212 3 1- 2 410 . ( 410 ) 95 5- 913 2. Ͻhttp://www.path.jhu.edu/pancreasϾ. University of Texas M.D. Anderson Cancer Center. 15 15 Holcombe Blvd., Houston, TX 77030. (800) 392 -1 6 11. Ͻhttp://www.mdanderson.orgϾ. WEBSITES American ... floor of the nose, or it may only occur in the soft palate, the soft portion of the roof of the mouth. The cleft palate...
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The Gale Genetic Disorders of encyclopedia vol 1 - part 8 pptx
... Genetic Testing for Late-Onset Disorders in Adults: A Position Paper of the National Society of Genetic Counselors.” Journal of the American Medical Association (October 15 , 19 97): 12 1 7- 12 21. Newman, ... Science (November 7, 19 97): 10 50 -1 0 54 . GALE ENCYCLOPEDIA OF GENETIC DISORDERS 4 81 Genetic testing sparse or absent hair, thin skin, and...
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The Gale Genetic Disorders of encyclopedia vol 1 - part 9 ppt
... Albinism (Hermansky-Pudlak Syndrome).” New England Journal of Medicine 338 (19 98): 12 58 -1 2 64. GALE ENCYCLOPEDIA OF GENETIC DISORDERS 5 51 Hermansky-Pudlak syndrome HGP data to link its sequence fragments with the ... their abilities. Resources ORGANIZATIONS Human Growth Foundation. 997 Glen Cove Ave., Glen Head, NY 11 54 5. (800) 4 5 1- 6434. Fax: ( 51 6 ) 6 7 1...
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The Gale Genetic Disorders of encyclopedia vol 2 - part 3 pps
... malformations and/or dys- functions of the ears (-oto-), palate (-palato-), fingers and toes (-digito-), skull (-cranio-), mouth (-oro-), face (- facio-), and bones (-osseo-). Some of the characteristics common ... Screening and Genetics Resource Center. 19 12 W. Anderson Lane, Suite 210 , Austin, TX 78 757 . Fax: ( 51 2 ) 45 4-6 419 . Ͻhttp://www.genes-r-us.uthscsa.eduϾ. Organ...
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