AN X-LINKED LOCUS WITH A PHENOTYPE OF HYPOHIDROTIC ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY WITH HYPER-IGM - APPARENTLY DISTINCT FROM BOTH THE EDA AND HIGM1 LOCI

被引：0

作者：

GAULT, J

ORLOW, S

SCHNEIDER, L

FULEIHAN, R

POBER, B

JONES, M

LITT, M

ZONANA, J

机构：

[1] OREGON HLTH SCI UNIV,PORTLAND,OR 97201

[2] NYU,NEW YORK,NY 10003

[3] CHILDRENS HOSP MED CTR,BOSTON,MA 02115

[4] YALE UNIV,DEPT GENET,NEW HAVEN,CT 06520

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1993年 / 53卷 / 03期

关键词：

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1002 / 1002

页数：1

共 30 条

[21] THE RANDOM INACTIVATION OF THE X-CHROMOSOME CARRYING THE DEFECTIVE GENE RESPONSIBLE FOR X-LINKED HYPER IGM SYNDROME (X-HIM) IN FEMALE CARRIERS OF HIGM1
HOLLENBAUGH, D
WU, LH
OCHS, HD
NONOYAMA, S
GROSMAIRE, LS
LEDBETTER, JA
NOELLE, RJ
HILL, H
ARUFFO, A
JOURNAL OF CLINICAL INVESTIGATION, 1994, 94 (02): : 616 - 622
[22] A novel missense mutation (402C→T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia
Hertz, JM
Hansen, KN
Juncker, I
Kjeldsen, M
Gregersen, N
CLINICAL GENETICS, 1998, 53 (03) : 205 - 209
[23] A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia
Tariq, Muhammad
Wasif, Naveed
Ayub, Muhammad
Ahmad, Wasim
EUROPEAN JOURNAL OF DERMATOLOGY, 2007, 17 (03) : 209 - 212
[24] Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations
Monreal, AW
Zonana, J
Ferguson, B
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (02) : 380 - 389
[25] EVIDENCE TAR A RAPE AUTOSOMAL RECESSIVE FORM OF HYPOHIDROTIC ECTODERMAL DYSPLASIA (ARHED) CLINICALLY INDISTINGUISHABLE FROM THE X-LINKED DISORDER AT THE EFA LOCUS
MUNOZ, F
JORGENSON, R
SYBERT, V
LESTRINGANT, G
FROSSARD, PM
FRYDMAN, M
ZONANA, J
AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1278 - 1278
[26] Abnormalities in V(D)J rearrangements in patients with X-linked hyper-IgM ectodermal dysplasia syndrome indicate a requirement for the Ikkγ-dependent signaling pathway in V(D)J recombination
Souto-Carneiro, MM
Fritsch, R
Yanovski, J
Lipsky, PE
FASEB JOURNAL, 2004, 18 (04): : A79 - A79
[27] X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene:: 406T>G (Leu55Arg)
Martínez, F
Millán, JM
Orellana, C
Prieto, F
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1999, 113 (02) : 285 - 286
[28] IDENTIFICATION OF BOTH DE-NOVO MOLECULAR DELETIONS AND AN APPARENT EXCESS OF MALE GERM-LINE MUTATIONS IN X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA) - IMPLICATIONS FOR GENETIC-COUNSELING
ZONANA, J
JONES, M
CLARKE, A
THOMAS, NST
AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 1263 - 1263
[29] Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations (vol 63, pg 680, 1998)
Monreal
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (04) : 1253 - 1255
[30] IMMUNOHISTOLOGIC ANALYSIS OF INEFFECTIVE CD40-CD40 LIGAND INTERACTION IN LYMPHOID-TISSUES FROM PATIENTS WITH X-LINKED IMMUNODEFICIENCY WITH HYPER-IGM - ABORTIVE GERMINAL CENTER CELL REACTION AND SEVERE DEPLETION OF FOLLICULAR DENDRITIC CELLS
FACCHETTI, F
APPIANI, C
SALVI, L
LEVY, J
NOTARANGELO, LD
JOURNAL OF IMMUNOLOGY, 1995, 154 (12): : 6624 - 6633

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