Volume 87; Issue 2

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Human Genetics
Volume 87; Issue 2

Human Genetics

Volume 87; Issue 2

1

Subregional localization of the chromosome 21 loci D21S24 and D21S26 using physical mapping techniques

Wim Hul, Hubert Backhovens, Guy Camp, Piet Stinissen, Marc Cruts, Anita Wehnert, Christine Broeckhoven

Journal:

Year:

1991

Language:

english

File:

PDF, 508 KB

english, 1991

2

Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion

Julie R. Korenberg, Dagmar K. Kalousek, Goran Anneren, Stefan-M. Pulst, Judith G. Hall, Charles J. Epstein, David R. Cox

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Year:

1991

Language:

english

File:

PDF, 833 KB

english, 1991

3

Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency

Onno E. Janssen, Kyoko Takeda, Samuel Refetoff

Journal:

Year:

1991

Language:

english

File:

PDF, 446 KB

english, 1991

4

Paracentric inversion of chromosome 15(q15q24): description of three families

Elvira D'Alessandro, Corinna Matteis, Maria Luisa Lo Re, Mario Cola, Claudio Ligas, Francesco Cappa, Giuseppe DelPorto

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Year:

1991

Language:

english

File:

PDF, 256 KB

english, 1991

5

Screening for a prevalent LDL receptor mutation in patients with severe hypercholesterolaemia

Markku J. Savolainen, Taina Korhonen, Katriina Aalto-Setälä, Kimmo Kontula, Y. Antero Kesäniemi

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Year:

1991

Language:

english

File:

PDF, 461 KB

english, 1991

6

Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family

Shrawan Kumar, William J. Kimberling, Patricia A. Gabow, Judy B. Kenyon

Journal:

Year:

1991

Language:

english

File:

PDF, 410 KB

english, 1991

7

A sterile male with 45,X0 and a Y;22 translocation

Joachim Arnemann, Susanne Schnittger, Georg K. Hinkel, Erika Tolkendorf, Jörg Schmidtke, Ingo Hansmann

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Year:

1991

Language:

english

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PDF, 826 KB

english, 1991

8

Cytogenetic analysis reveals clonal proliferation of smooth muscle cells in atherosclerotic plaques

R. Casalone, P. Granata, E. Minelli, P. Portentoso, A. Giudici, R. Righi, P. Castelli, A. Socrate, B. Frigerio

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Year:

1991

Language:

english

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PDF, 902 KB

english, 1991

9

Increased melanogenesis in cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF1)

Dieter Kaufmann, Suzanne Wiandt, Joseph Veser, Winfrid Krone

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Year:

1991

Language:

english

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PDF, 683 KB

english, 1991

10

Partial 3q duplication syndrome and assignment of D3S5 to 3q25–3q28

Anthonie J. Essen, Klaas Kok, Anke Berg, Bauke Jong, Femmy Stellink, Arend F. Bos, Hans Scheffer, Charles H. C. M. Buys

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Year:

1991

Language:

english

File:

PDF, 741 KB

english, 1991

11

An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy

Wolfgang Bohne, Kurt Figura, Volkmar Gieselmann

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Year:

1991

Language:

english

File:

PDF, 572 KB

english, 1991

12

Exclusion of linkage to the pericentromeric region of chromosome 21 in the Canadian pedigree with familial Alzheimer disease

S. -M. Pulst, P. Fain, V. Cohn, L. E. Nee, R. J. Polinsky, J. R. Korenberg

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Year:

1991

Language:

english

File:

PDF, 337 KB

english, 1991

13

The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q

Clair A. Francomano, Garry R. Cutting, Mary Kay McCormick, Mon Li Chu, Rupert Timpl, Hee Kyung Hong, Stylianos E. Antonarakis

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Year:

1991

Language:

english

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PDF, 765 KB

english, 1991

14

Cysteine in the triple helical domain of the proα2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta

Daniel H. Cohn, Peter H. Byers

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Year:

1991

Language:

english

File:

PDF, 614 KB

english, 1991

15

The importance of further cytogenetic and molecular investigation of acrocentric variants: justification by presentation of a case [t(8;14)(q24;p11)]

L. Hills, E. Earle, M. Wilson, V. Petrovic, L. E. Voullaire, M. Leversha, D. M. Danks, K. H. Choo

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Year:

1991

Language:

english

File:

PDF, 775 KB

english, 1991

16

CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series

Shi-Han Chen, Min Zhang, Everett W. Lovrien, C. Ronald Scott, Arthur R. Thompson

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Year:

1991

Language:

english

File:

PDF, 736 KB

english, 1991

17

Constitutional extra chromosomal element in a family with Wilms' tumor

S. Kakati, H. Xiao, S. Y. Siddiqui, C. Sreekantaiah, H. -U. G. Weier, D. M. Green, J. E. Fisher, J. E. Allen

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Year:

1991

Language:

english

File:

PDF, 1.01 MB

english, 1991

18

The human kininogen gene (KNG) mapped to chromosome 3q26-qter by analysis of somatic cell hybrids using the polymerase chain reaction

Dunne Fong, David I. Smith, Wang-Ting Hsieh

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Year:

1991

Language:

english

File:

PDF, 387 KB

english, 1991

19

Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen α2(I) chain

A. C. Nicholls, J. Oliver, D. V. Renouf, J. McPheat, A. Palan, F. M. Pope

Journal:

Year:

1991

Language:

english

File:

PDF, 1011 KB

english, 1991

20

Evidence of selective interaction between adenosine deaminase and acid phosphatase polymorphisms in fetuses carried by diabetic women

E. Bottini, G. Gerlini, N. Lucarini, A. Amante, F. Gloria-Bottini

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Year:

1991

Language:

english

File:

PDF, 163 KB

english, 1991

21

Localization of the cellular retinoic acid binding protein (CRABP) gene relative to the acute promyelocytic leukemia-associated breakpoint on human chromosome 15

A. Geurts Kessel, H. Leeuw, E. J. Dekker, L. Rijks, N. Spurr, D. Ledbetter, E. Kootwijk, M. J. Vaessen

Journal:

Year:

1991

Language:

english

File:

PDF, 487 KB

english, 1991

22

The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II — Hunter syndrome)

James E. Wraith, Alan Cooper, Margaret Thornley, Peter J. Wilson, Paul V. Nelson, C. Phillip Morris, John J. Hopwood

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Year:

1991

Language:

english

File:

PDF, 350 KB

english, 1991

23

Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus

Gladys M. Glenn, Lambert N. Daniel, Peter Choyke, W. Marston Linehan, Edward Oldfield, Michael B. Gorin, Shigeto Hosoe, Farida Latif, Gary Weiss, McClellan Walther, Michael I. Lerman, Berton Zbar

Journal:

Year:

1991

Language:

english

File:

PDF, 361 KB

english, 1991

24

The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy

Xun-ling Zhang, Mohammad A. Rafi, Gregory Gala, David A. Wenger

Journal:

Year:

1991

Language:

english

File:

PDF, 515 KB

english, 1991

25

DNA diagnosis of hydatidiform mole using the polymerase chain reaction

Ryuichi Fukuyama, Mizuho Takata, Jun Kudoh, Kosuke Sakai, Shozo Tamura, Nobuyoshi Shimizu

Journal:

Year:

1991

Language:

english

File:

PDF, 371 KB

english, 1991

26

The length polymorphism in the 5′ flanking region of the human β-globin gene with denaturing gradient gel electrophoresis in a Japanese population

Norio Takahashi, Keiko Hiyama, Mieko Kodaira, Chiyoko Satoh

Journal:

Year:

1991

Language:

english

File:

PDF, 266 KB

english, 1991

27

Mapping of the ribophorin II (RPN II) gene to human chromosome 20q12–q13.1 by in-situ hybridization

Christiane Löffler, V. V. N. Gopal Rao, Ingo Hansmann

Journal:

Year:

1991

Language:

english

File:

PDF, 187 KB

english, 1991

28

Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation

N. Morrison, D. A. Nickson, M. W. McBride, U. W. Mueller, E. Boyd, R. G. Sutcliffe

Journal:

Year:

1991

Language:

english

File:

PDF, 332 KB

english, 1991

29

Chromosomal assignment of a large tRNA gene cluster (tRNALeu, tRNAGln, tRNALys, tRNAArg, tRNAGly) to 17p13.1

N. Morrison, J. P. Goddard, D. H. Ledbetter, E. Boyd, D. Bourn, J. M. Connor

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Year:

1991

Language:

english

File:

PDF, 611 KB

english, 1991

30

The gene for the type 1 tumor necrosis factor receptor (TNF-R1) is localized on band 12p13

Josette Derré, Oliver Kemper, Dorra Cherif, Yaron Nophar, Roland Berger, David Wallach

Journal:

Year:

1991

Language:

english

File:

PDF, 461 KB

english, 1991

31

Deletion mapping of interval 6 of the human Y chromosome

Maciej Kotecki, Jadwiga Jaruzelska, Malgorzata Skowrońska, Piotr Fichna

Journal:

Year:

1991

Language:

english

File:

PDF, 268 KB

english, 1991

32

A new δ chain variant hemoglobin A2-Corfu or α2δ2116 Arg→Cys (G18), detected by δ-globin gene analysis in a Greek family

Georgios Loudianos, Stefania Murru, Emmanuel Kanavakis, Anna Metaxotou-Mavromati, Dimitra Theodoropoulou, Christos Kattamis, Antonio Cao, Mario Pirastu

Journal:

Year:

1991

Language:

english

File:

PDF, 233 KB

english, 1991

33

Triple trisomy in a 17-week-old fetus

Mark J. Pettenati, Nagesh Rao

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Year:

1991

Language:

english

File:

PDF, 298 KB

english, 1991

34

A third allele of thePstI RFLP at DXS94

M. Oehler, E. Schwinger, F. M. Meire, P. Szabo, A. Gal

Journal:

Year:

1991

Language:

english

File:

PDF, 92 KB

english, 1991

35

Letters to the Editor

Erica M. Bühler

Journal:

Year:

1991

Language:

english

File:

PDF, 132 KB

english, 1991

36

Reply to letter by E.M. Bühler

Paulo S. Martinho, Priscilla G. Otto

Journal:

Year:

1991

Language:

english

File:

PDF, 122 KB

english, 1991

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