-
1
-
-
0030203407
-
The infant neurodevelopmental assessment: A clinical interpretive manual for CAT-CLAMS in the first two years of life
-
CAPUTE A.J., ACCARDO P.J.: The infant neurodevelopmental assessment: a clinical interpretive manual for CAT-CLAMS in the first two years of life. Curr. Prob. Pediatr., 1996, 26, 238-257.
-
(1996)
Curr. Prob. Pediatr.
, vol.26
, pp. 238-257
-
-
Capute, A.J.1
Accardo, P.J.2
-
3
-
-
0027935275
-
Cutaneous and joint laxity in chromosome 6q deletion
-
DILERNIA V., ALBERTINI G.: Cutaneous and joint laxity in chromosome 6q deletion. Ped. Derm., 1994, 11, 281-282.
-
(1994)
Ped. Derm.
, vol.11
, pp. 281-282
-
-
Dilernia, V.1
Albertini, G.2
-
4
-
-
0033119609
-
Autosomal dominant Stargart-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14
-
EDWARDS A.O., MIEDZIAC A., VRABEC T., VERHOEVEN J., ACOTT T.S., WELEBER R.G., DONOSO L.A.: Autosomal dominant Stargart-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14. Am. J. Ophthalmol., 1999, 127, 426-435.
-
(1999)
Am. J. Ophthalmol.
, vol.127
, pp. 426-435
-
-
Edwards, A.O.1
Miedziac, A.2
Vrabec, T.3
Verhoeven, J.4
Acott, T.S.5
Weleber, R.G.6
Donoso, L.A.7
-
5
-
-
0029965977
-
Interstitial deletion (6) q13q15
-
GERSHONI-BARUCH R., MANDEL H., BAR EL H., BAR-NIZAN N., BOROCHOWITZ Z., DAR H.: Interstitial deletion (6) q13q15. Am. J. Med. Genet, 1996, 62, 345-347.
-
(1996)
Am. J. Med. Genet.
, vol.62
, pp. 345-347
-
-
Gershoni-Baruch, R.1
Mandel, H.2
Bar El, H.3
Bar-Nizan, N.4
Borochowitz, Z.5
Dar, H.6
-
6
-
-
0033987580
-
Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci
-
GRIESINGER I.B., SIEVING P.A., AYYAGARI R.: Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Invest. Ophthalmol. Vis. Sci., 2000, 41, 248-255.
-
(2000)
Invest. Ophthalmol. Vis. Sci.
, vol.41
, pp. 248-255
-
-
Griesinger, I.B.1
Sieving, P.A.2
Ayyagari, R.3
-
7
-
-
0030906366
-
New insights into the phenotypes of 6q deletions
-
HOPKIN R.J., SCHORRY E., BOFINGER M., MILATOVICH A., STERN H.J., JAYNE C., SAAL H.M.: New insights into the phenotypes of 6q deletions. Am. J. Med. Genet., 1997, 70, 377-386.
-
(1997)
Am. J. Med. Genet.
, vol.70
, pp. 377-386
-
-
Hopkin, R.J.1
Schorry, E.2
Bofinger, M.3
Milatovich, A.4
Stern, H.J.5
Jayne, C.6
Saal, H.M.7
-
8
-
-
0032231753
-
Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q
-
KELSELL R.E., GREGORY-EVANS K., GREGORY-EVANS C.Y., HOLDER G.E., JAY M.R., WEBER B.H., MOORE A.T., BIRD A.C., HUNT D.M.: Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. Am. J. Hum. Genet., 1998, 63, 274-279.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 274-279
-
-
Kelsell, R.E.1
Gregory-Evans, K.2
Gregory-Evans, C.Y.3
Holder, G.E.4
Jay, M.R.5
Weber, B.H.6
Moore, A.T.7
Bird, A.C.8
Hunt, D.M.9
-
9
-
-
0032781322
-
Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease
-
KNIAZEVA M., CHIANG M.F., CUTTING G.R., ZACK D.J., HAN M., ZHANG K.: Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease. Ophthalmic Genet., 1999, 20, 71-81.
-
(1999)
Ophthalmic Genet.
, vol.20
, pp. 71-81
-
-
Kniazeva, M.1
Chiang, M.F.2
Cutting, G.R.3
Zack, D.J.4
Han, M.5
Zhang, K.6
-
10
-
-
0033833739
-
A new locus for dominant drusen and macular degeneration maps to chromosome 6q14
-
KNIAZEVA M., TRABOULSI E.I., YU Z., STEFKO S.T., GORIN M.B., SHUGART Y.Y., O'CONNELL J.R., BLASCHAK C.J., CUTTING G., HAN M., ZHANG K.: A new locus for dominant drusen and macular degeneration maps to chromosome 6q14. Am. J. Ophthalmol., 2000, 130, 197-202.
-
(2000)
Am. J. Ophthalmol.
, vol.130
, pp. 197-202
-
-
Kniazeva, M.1
Traboulsi, E.I.2
Yu, Z.3
Stefko, S.T.4
Gorin, M.B.5
Shugart, Y.Y.6
O'Connell, J.R.7
Blaschak, C.J.8
Cutting, G.9
Han, M.10
Zhang, K.11
-
11
-
-
0030747987
-
Proximal interstitial 6q deletion: A recognizable syndrome
-
KUMAR R., RIORDAN D., DAWSON A.J., CHUDLEY A.: Proximal interstitial 6q deletion: A recognizable syndrome. Am. J. Med. Genet., 1997, 71, 353-356.
-
(1997)
Am. J. Med. Genet.
, vol.71
, pp. 353-356
-
-
Kumar, R.1
Riordan, D.2
Dawson, A.J.3
Chudley, A.4
-
12
-
-
0036299006
-
Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14
-
LAGALI P.S., KAKUK L.E., GRIESINGER I.B., WONG P.W., AYYAGARI R.: Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14. Biochem. Biophys. Res. Commun., 2002, 293, 356-365.
-
(2002)
Biochem. Biophys. Res. Commun.
, vol.293
, pp. 356-365
-
-
Lagali, P.S.1
Kakuk, L.E.2
Griesinger, I.B.3
Wong, P.W.4
Ayyagari, R.5
-
13
-
-
0023868809
-
A malformed girl with a de novo proximal 6q deletion
-
LONARDO F., COLANTUONI M., FESTA B., GENTILE G., GUERRITORE G., PERONE L., SANTULLI B., VENTRUTO V.: A malformed girl with a de novo proximal 6q deletion. Ann. Genet., 1988, 31, 57-59.
-
(1988)
Ann. Genet.
, vol.31
, pp. 57-59
-
-
Lonardo, F.1
Colantuoni, M.2
Festa, B.3
Gentile, G.4
Guerritore, G.5
Perone, L.6
Santulli, B.7
Ventruto, V.8
-
14
-
-
0017756843
-
Congenital anomalies including the VATER association in a patient with a del(6)q deletion
-
MCNEAL R.M., SKOGLUND R.R., FRANCKE U.: Congenital anomalies including the VATER association in a patient with a del(6)q deletion. J. Peds., 1977, 91, 957-960.
-
(1977)
J. Peds.
, vol.91
, pp. 957-960
-
-
McNeal, R.M.1
Skoglund, R.R.2
Francke, U.3
-
15
-
-
0030848880
-
Clinical and genetic evidence for autosomal dominant North Carolina macular dystrophy in a German family
-
PAULEIKHOFF D., SAUER C.G., MULLER C.R., RADERMACHER M., MERZ A., WEBER B.H.F.: Clinical and genetic evidence for autosomal dominant North Carolina macular dystrophy in a German family. Am. J. Ophthalmol., 1997, 124, 412-415.
-
(1997)
Am. J. Ophthalmol.
, vol.124
, pp. 412-415
-
-
Pauleikhoff, D.1
Sauer, C.G.2
Muller, C.R.3
Radermacher, M.4
Merz, A.5
Weber, B.H.F.6
-
16
-
-
0027304749
-
Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q14 to 6q16
-
ROLAND B., LOWRY R.B., COX D.M., FERREIRA P., LIN C.C.: Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q14 to 6q16. Clin. Genet., 1993, 4, 117-121.
-
(1993)
Clin. Genet.
, vol.4
, pp. 117-121
-
-
Roland, B.1
Lowry, R.B.2
Cox, D.M.3
Ferreira, P.4
Lin, C.C.5
-
17
-
-
0030010258
-
Monosomy 6q1: Syndrome delineation
-
ROMIE S.S., HARTSFIELD J.K., SUTCLIFFE M.J., DUMONT D.P., KOUSSEFF B.C.: Monosomy 6q1: Syndrome delineation. Am. J. Med. Genet., 1996, 62, 105-108.
-
(1996)
Am. J. Med. Genet.
, vol.62
, pp. 105-108
-
-
Romie, S.S.1
Hartsfield, J.K.2
Sutcliffe, M.J.3
Dumont, D.P.4
Kousseff, B.C.5
-
18
-
-
0026509505
-
Ocular albinism in a male with del(6)(q13-q15): Candidate region for autosomal recessive ocular albinism?
-
ROSE N.C., MENACKER S.J., SCHNUR R.E., JACKSON L., MCDONALD-MCGINN D.M., STUMP T., EMANUEL B.S., ZACKAI E.H.: Ocular albinism in a male with del(6)(q13-q15): Candidate region for autosomal recessive ocular albinism? Am. J. Med. Genet., 1992, 42, 700-705.
-
(1992)
Am. J. Med. Genet.
, vol.42
, pp. 700-705
-
-
Rose, N.C.1
Menacker, S.J.2
Schnur, R.E.3
Jackson, L.4
Mcdonald-Mcginn, D.M.5
Stump, T.6
Emanuel, B.S.7
Zackai, E.H.8
-
19
-
-
0030774056
-
An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1)
-
SAUER C.G., SCHWORM H.D., ULBIG M., BLANKENAGEL A., ROHRSCHNEIDER K., PAULEIKHOFF D., GRIMM T., WEBER B.H.F.: An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1). J. Med. Genet., 1997, 34, 961-966.
-
(1997)
J. Med. Genet.
, vol.34
, pp. 961-966
-
-
Sauer, C.G.1
Schworm, H.D.2
Ulbig, M.3
Blankenagel, A.4
Rohrschneider, K.5
Pauleikhoff, D.6
Grimm, T.7
Weber, B.H.F.8
-
20
-
-
0023862956
-
Interstitial deletion (6)(q11-q15) in an infant with congenital abnormalities
-
SLATER H.R., ROBB A., FORSYTHE L.A., HAMILTON D.A., CLARK M.C., GALLOWAY C.A.S.: Interstitial deletion (6)(q11-q15) in an infant with congenital abnormalities. J. Med. Genet., 1987, 25, 210-211.
-
(1987)
J. Med. Genet.
, vol.25
, pp. 210-211
-
-
Slater, H.R.1
Robb, A.2
Forsythe, L.A.3
Hamilton, D.A.4
Clark, M.C.5
Galloway, C.A.S.6
-
21
-
-
0033825507
-
Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration
-
STEFKO S.T., ZHANG K., GORIN M.B., TRABOULSI E.I.: Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration. Am. J. Ophthalmol., 2000, 130, 203-208.
-
(2000)
Am. J. Ophthalmol.
, vol.130
, pp. 203-208
-
-
Stefko, S.T.1
Zhang, K.2
Gorin, M.B.3
Traboulsi, E.I.4
-
22
-
-
0034979562
-
Molecular genetic heterogeneity in autosomal dominant drusen
-
TARTTELIN E.E., GREGORY-EVANS C.Y., BIRD A.C., WELEBER R.G., KLEIN M.L., BLACKBURN J., GREGORY-EVANS K.: Molecular genetic heterogeneity in autosomal dominant drusen. J. Med. Genet., 2001, 38, 381-384.
-
(2001)
J. Med. Genet.
, vol.38
, pp. 381-384
-
-
Tarttelin, E.E.1
Gregory-Evans, C.Y.2
Bird, A.C.3
Weleber, R.G.4
Klein, M.L.5
Blackburn, J.6
Gregory-Evans, K.7
-
23
-
-
0023683122
-
6q1 monosomy: A distinctive syndrome
-
TURLEAU C., DEMAY G., CABANIS M.O., LENOIR G., DEGROUCHY J.: 6q1 monosomy: A distinctive syndrome. Clin. Genet., 1988, 34, 38-42.
-
(1988)
Clin. Genet.
, vol.34
, pp. 38-42
-
-
Turleau, C.1
Demay, G.2
Cabanis, M.O.3
Lenoir, G.4
Degrouchy, J.5
-
24
-
-
0026521872
-
Monosomy 6q: Report on four new cases
-
VALTAT C., GALLIANO D., METTEY R., TOUTAIN A., MORAINE C.: Monosomy 6q: Report on four new cases. Clin. Genet., 1992, 41, 159-166.
-
(1992)
Clin. Genet.
, vol.41
, pp. 159-166
-
-
Valtat, C.1
Galliano, D.2
Mettey, R.3
Toutain, A.4
Moraine, C.5
-
25
-
-
0022536187
-
Deletion of proximal 6q: A clinical report and review of the literature
-
YAMAMOTO Y., OKAMOTO N., SHIRAISHI H., YANAGISAWA M., KAMOSHITA S.: Deletion of proximal 6q: A clinical report and review of the literature. Am. J. Med. Genet., 1986, 25, 467-471.
-
(1986)
Am. J. Med. Genet.
, vol.25
, pp. 467-471
-
-
Yamamoto, Y.1
Okamoto, N.2
Shiraishi, H.3
Yanagisawa, M.4
Kamoshita, S.5
-
26
-
-
0022001559
-
Deletions of the long arm of chromosome 6: Two new cases and review of the literature
-
YOUNG R.S., FIDONE G.S., REIDER-GARCIA P.A., HANSEN K.L., MCCOMBS J.L., MOORE C.M.: Deletions of the long arm of chromosome 6: Two new cases and review of the literature. Am. J. Med. Genet., 1985, 20, 21-29.
-
(1985)
Am. J. Med. Genet.
, vol.20
, pp. 21-29
-
-
Young, R.S.1
Fidone, G.S.2
Reider-Garcia, P.A.3
Hansen, K.L.4
McCombs, J.L.5
Moore, C.M.6
-
27
-
-
0035168415
-
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
-
ZHANG K., KNIAZEVA M., HAN M., LI W., YU Z, YANG Z., LI Y., METZKER M.L., ALLIKMETS R., ZACK D.J., KAKUK L.E., LAGALI P.S., WONG P.W., MACDONALD I.M., SIEVING P.A., FIGUEROA D.J., AUSTIN C.P., GOULD R.J., AYYAGARI R., PETRUKHIN K.: A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat. Genet, 2001, 27, 89-93.
-
(2001)
Nat. Genet
, vol.27
, pp. 89-93
-
-
Zhang, K.1
Kniazeva, M.2
Han, M.3
Li, W.4
Yu, Z.5
Yang, Z.6
Li, Y.7
Metzker, M.L.8
Allikmets, R.9
Zack, D.J.10
Kakuk, L.E.11
Lagali, P.S.12
Wong, P.W.13
Macdonald, I.M.14
Sieving, P.A.15
Figueroa, D.J.16
Austin, C.P.17
Gould, R.J.18
Ayyagari, R.19
Petrukhin, K.20
more..
|